A common variant near TGFBR3 is associated with primary open angle glaucoma
Identifieur interne : 000276 ( Pmc/Corpus ); précédent : 000275; suivant : 000277A common variant near TGFBR3 is associated with primary open angle glaucoma
Auteurs : Zheng Li ; R. Rand Allingham ; Masakazu Nakano ; Liyun Jia ; Yuhong Chen ; Yoko Ikeda ; Baskaran Mani ; Li-Jia Chen ; Changwon Kee ; David F. Garway-Heath ; Sarangapani Sripriya ; Nobuo Fuse ; Khaled K. Abu-Amero ; Chukai Huang ; Prasanthi Namburi ; Kathryn Burdon ; Shamira A. Perera ; Puya Gharahkhani ; Ying Lin ; Morio Ueno ; Mineo Ozaki ; Takanori Mizoguchi ; Subbiah Ramasamy Krishnadas ; Essam A. Osman ; Mei Chin Lee ; Anita S. Y. Chan ; Liza-Sharmini A. Tajudin ; Tan Do ; Aurelien Goncalves ; Pascal Reynier ; Hong Zhang ; Rupert Bourne ; David Goh ; David Broadway ; Rahat Husain ; Anil K. Negi ; Daniel H. Su ; Ching-Lin Ho ; Augusto Azuara Blanco ; Christopher K. S. Leung ; Tina T. Wong ; Azhany Yakub ; Yutao Liu ; Monisha E. Nongpiur ; Jong Chul Han ; Do Nhu Hon ; Balekudaru Shantha ; Bowen Zhao ; Jinghong Sang ; Nihong Zhang ; Ryuichi Sato ; Kengo Yoshii ; Songhomita Panda-Jonas ; Allison E. Ashley Koch ; Leon W. Herndon ; Sayoko E. Moroi ; Pratap Challa ; Jia Nee Foo ; Jin-Xin Bei ; Yi-Xin Zeng ; Cameron P. Simmons ; Tran Nguyen Bich Chau ; Philomenadin Ferdinamarie Sharmila ; Merwyn Chew ; Blanche Lim ; Pansy O. S. Tam ; Elaine Chua ; Xiao Yu Ng ; Victor H. K. Yong ; Yaan Fun Chong ; Wee Yang Meah ; Saravanan Vijayan ; Sohn Seongsoo ; Wang Xu ; Yik Ying Teo ; Jessica N. Cooke Bailey ; Jae H. Kang ; Jonathan L. Haines ; Ching Yu Cheng ; Seang-Mei Saw ; E-Shyong Tai ; Julia E. Richards ; Robert Ritch ; Douglas E. Gaasterland ; Louis R. Pasquale ; Jianjun Liu ; Jost B. Jonas ; Dan Milea ; Ronnie George ; Saleh A. Al-Obeidan ; Kazuhiko Mori ; Stuart Macgregor ; Alex W. Hewitt ; Christopher A. Girkin ; Mingzhi Zhang ; Periasamy Sundaresan ; Lingam Vijaya ; David A. Mackey ; Tien Yin Wong ; Jamie E. Craig ; Xinghuai Sun ; Shigeru Kinoshita ; Janey L. Wiggs ; Chiea-Chuen Khor ; Zhenglin Yang ; Chi Pui Pang ; Ningli Wang ; Michael A. Hauser ; Kei Tashiro ; Tin Aung ; Eranga N. VithanaSource :
- Human Molecular Genetics [ 0964-6906 ] ; 2015.
Abstract
Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at
Url:
DOI: 10.1093/hmg/ddv128
PubMed: 25861811
PubMed Central: 4459396
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PMC:4459396Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A common variant near <italic>TGFBR3</italic> is associated with primary open angle glaucoma</title><author><name sortKey="Li, Zheng" sort="Li, Zheng" uniqKey="Li Z" first="Zheng" last="Li">Zheng Li</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Allingham, R Rand" sort="Allingham, R Rand" uniqKey="Allingham R" first="R. Rand" last="Allingham">R. Rand Allingham</name><affiliation><nlm:aff id="af4"><addr-line>Department of Ophthalmology</addr-line>,<institution>Duke University Eye Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Nakano, Masakazu" sort="Nakano, Masakazu" uniqKey="Nakano M" first="Masakazu" last="Nakano">Masakazu Nakano</name><affiliation><nlm:aff id="af5"><addr-line>Department of Genomic Medical Sciences</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Jia, Liyun" sort="Jia, Liyun" uniqKey="Jia L" first="Liyun" last="Jia">Liyun Jia</name><affiliation><nlm:aff id="af8"><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Chen, Yuhong" sort="Chen, Yuhong" uniqKey="Chen Y" first="Yuhong" last="Chen">Yuhong Chen</name><affiliation><nlm:aff id="af9"><addr-line>Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical School</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ikeda, Yoko" sort="Ikeda, Yoko" uniqKey="Ikeda Y" first="Yoko" last="Ikeda">Yoko Ikeda</name><affiliation><nlm:aff id="af6"><addr-line>Department of Ophthalmology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Mani, Baskaran" sort="Mani, Baskaran" uniqKey="Mani B" first="Baskaran" last="Mani">Baskaran Mani</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Chen, Li Jia" sort="Chen, Li Jia" uniqKey="Chen L" first="Li-Jia" last="Chen">Li-Jia Chen</name><affiliation><nlm:aff id="af14"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese Uuniversity of Hong Kong Eye Hospital</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Kee, Changwon" sort="Kee, Changwon" uniqKey="Kee C" first="Changwon" last="Kee">Changwon Kee</name><affiliation><nlm:aff id="af15"><addr-line>Department of Ophthalmology, Samsung Medical Center</addr-line>,<institution>Sungkyunkwan University, School of Medicine</institution>,<addr-line>Seoul</addr-line>,<country>Seoul Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Garway Heath, David F" sort="Garway Heath, David F" uniqKey="Garway Heath D" first="David F." last="Garway-Heath">David F. Garway-Heath</name><affiliation><nlm:aff id="af16"><institution>National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and University College London Institute of Ophthalmology</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Sripriya, Sarangapani" sort="Sripriya, Sarangapani" uniqKey="Sripriya S" first="Sarangapani" last="Sripriya">Sarangapani Sripriya</name><affiliation><nlm:aff id="af17"><addr-line>SNONGC Department of Genetics and Molecular Biology</addr-line>,<institution>Vision Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Fuse, Nobuo" sort="Fuse, Nobuo" uniqKey="Fuse N" first="Nobuo" last="Fuse">Nobuo Fuse</name><affiliation><nlm:aff id="af18"><addr-line>Department of Integrative Genomics</addr-line>,<institution>Tohoku Medical Megabank Organization</institution>,<addr-line>Sendai</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Abu Amero, Khaled K" sort="Abu Amero, Khaled K" uniqKey="Abu Amero K" first="Khaled K." last="Abu-Amero">Khaled K. Abu-Amero</name><affiliation><nlm:aff id="af19"><addr-line>Department of Ophthalmology</addr-line>,<institution>College of Medicine</institution>,<institution>King Saud University</institution>,<addr-line>Riyadh</addr-line>,<country>Saudi Arabia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af20"><addr-line>Department of Ophthalmology</addr-line>,<institution>College of Medicine</institution>,<institution>University of Florida</institution>,<addr-line>Jacksonville, FL</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Huang, Chukai" sort="Huang, Chukai" uniqKey="Huang C" first="Chukai" last="Huang">Chukai Huang</name><affiliation><nlm:aff id="af21"><addr-line>Chinese University of Hong Kong Joint Shantou International Eye Center</addr-line>,<institution>Shantou University</institution>,<addr-line>Shantou</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Namburi, Prasanthi" sort="Namburi, Prasanthi" uniqKey="Namburi P" first="Prasanthi" last="Namburi">Prasanthi Namburi</name><affiliation><nlm:aff id="af22"><addr-line>Department of Genetics</addr-line>,<institution>Aravind Medical Research Foundation</institution>,<addr-line>Madurai, Tamilnadu</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Burdon, Kathryn" sort="Burdon, Kathryn" uniqKey="Burdon K" first="Kathryn" last="Burdon">Kathryn Burdon</name><affiliation><nlm:aff id="af23"><institution>Menzies Institute for Medical Research</institution>,<institution>University of Tasmania</institution>,<addr-line>Hobart</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af24"><addr-line>Department of Ophthalmology</addr-line>,<institution>Flinders University</institution>,<addr-line>Adelaide</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Perera, Shamira A" sort="Perera, Shamira A" uniqKey="Perera S" first="Shamira A." last="Perera">Shamira A. Perera</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Gharahkhani, Puya" sort="Gharahkhani, Puya" uniqKey="Gharahkhani P" first="Puya" last="Gharahkhani">Puya Gharahkhani</name><affiliation><nlm:aff id="af25"><addr-line>Department of Genetics and Computational Biology, Statistical Genetics</addr-line>,<institution>QIMR Berghofer Medical Research Institute</institution>,<addr-line>Brisbane, QLD</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Lin, Ying" sort="Lin, Ying" uniqKey="Lin Y" first="Ying" last="Lin">Ying Lin</name><affiliation><nlm:aff id="af26"><addr-line>Sichuan Provincial Key Laboratory for Human Disease Gene Study</addr-line>,<institution>Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital</institution>,<addr-line>Chengdu</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af27"><addr-line>School of Medicine</addr-line>,<institution>University of Electronic Science and Technology of China</institution>,<addr-line>Chengdu</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Ueno, Morio" sort="Ueno, Morio" uniqKey="Ueno M" first="Morio" last="Ueno">Morio Ueno</name><affiliation><nlm:aff id="af6"><addr-line>Department of Ophthalmology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ozaki, Mineo" sort="Ozaki, Mineo" uniqKey="Ozaki M" first="Mineo" last="Ozaki">Mineo Ozaki</name><affiliation><nlm:aff id="af28"><institution>Ozaki Eye Hospital</institution>,<addr-line>1–15, Kamezaki, Hyuga, Miyazaki 883-0066</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Mizoguchi, Takanori" sort="Mizoguchi, Takanori" uniqKey="Mizoguchi T" first="Takanori" last="Mizoguchi">Takanori Mizoguchi</name><affiliation><nlm:aff id="af29"><institution>Mizoguchi Eye Hospital</institution>,<addr-line>6-13 Tawara-machi, Sasebo, Nagasaki 857-0016</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Krishnadas, Subbiah Ramasamy" sort="Krishnadas, Subbiah Ramasamy" uniqKey="Krishnadas S" first="Subbiah Ramasamy" last="Krishnadas">Subbiah Ramasamy Krishnadas</name><affiliation><nlm:aff id="af30"><addr-line>Glaucoma Services</addr-line>,<institution>Aravind Eye Hospital</institution>,<addr-line>Madurai, Tamilnadu</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Osman, Essam A" sort="Osman, Essam A" uniqKey="Osman E" first="Essam A." last="Osman">Essam A. Osman</name><affiliation><nlm:aff id="af19"><addr-line>Department of Ophthalmology</addr-line>,<institution>College of Medicine</institution>,<institution>King Saud University</institution>,<addr-line>Riyadh</addr-line>,<country>Saudi Arabia</country>,</nlm:aff></affiliation></author><author><name sortKey="Lee, Mei Chin" sort="Lee, Mei Chin" uniqKey="Lee M" first="Mei Chin" last="Lee">Mei Chin Lee</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Chan, Anita S Y" sort="Chan, Anita S Y" uniqKey="Chan A" first="Anita S. Y." last="Chan">Anita S. Y. Chan</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Tajudin, Liza Sharmini A" sort="Tajudin, Liza Sharmini A" uniqKey="Tajudin L" first="Liza-Sharmini A." last="Tajudin">Liza-Sharmini A. Tajudin</name><affiliation><nlm:aff id="af31"><addr-line>Department of Ophthalmology, School of Medical Sciences</addr-line>,<institution>Universiti Sains Malaysia</institution>,<addr-line>Kota Bharu, Kelantan</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation></author><author><name sortKey="Do, Tan" sort="Do, Tan" uniqKey="Do T" first="Tan" last="Do">Tan Do</name><affiliation><nlm:aff id="af32"><institution>Vietnam National Institute of Ophthalmology</institution>,<addr-line>Hanoi</addr-line>,<country>Vietnam</country>,</nlm:aff></affiliation></author><author><name sortKey="Goncalves, Aurelien" sort="Goncalves, Aurelien" uniqKey="Goncalves A" first="Aurelien" last="Goncalves">Aurelien Goncalves</name><affiliation><nlm:aff id="af33"><addr-line>Ophthalmology Department</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Reynier, Pascal" sort="Reynier, Pascal" uniqKey="Reynier P" first="Pascal" last="Reynier">Pascal Reynier</name><affiliation><nlm:aff id="af34"><addr-line>Biochemistry Department</addr-line>,<institution>Angers University Hospital</institution>,<addr-line>Angers</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Zhang, Hong" sort="Zhang, Hong" uniqKey="Zhang H" first="Hong" last="Zhang">Hong Zhang</name><affiliation><nlm:aff id="af35"><addr-line>Department of Ophthalmology, Tongji Hospital of Tongji Medical College</addr-line>,<institution>Huazhong University of Science and Technology</institution>,<addr-line>Wuhan</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Bourne, Rupert" sort="Bourne, Rupert" uniqKey="Bourne R" first="Rupert" last="Bourne">Rupert Bourne</name><affiliation><nlm:aff id="af36"><addr-line>Huntingdon Glaucoma Diagnostic & Research Centre</addr-line>,<institution>Hinchingbrooke Hospital</institution>,<addr-line>Huntingdon</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Goh, David" sort="Goh, David" uniqKey="Goh D" first="David" last="Goh">David Goh</name><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Broadway, David" sort="Broadway, David" uniqKey="Broadway D" first="David" last="Broadway">David Broadway</name><affiliation><nlm:aff id="af37"><institution>Norfolk & Norwich University Hospital NHS Trust</institution>,<addr-line>Norwich</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Husain, Rahat" sort="Husain, Rahat" uniqKey="Husain R" first="Rahat" last="Husain">Rahat Husain</name><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Negi, Anil K" sort="Negi, Anil K" uniqKey="Negi A" first="Anil K." last="Negi">Anil K. Negi</name><affiliation><nlm:aff id="af38"><institution>Heart of UK NHS Foundation Trust</institution>,<addr-line>Birmingham</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Su, Daniel H" sort="Su, Daniel H" uniqKey="Su D" first="Daniel H" last="Su">Daniel H. Su</name><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Ho, Ching Lin" sort="Ho, Ching Lin" uniqKey="Ho C" first="Ching-Lin" last="Ho">Ching-Lin Ho</name><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Blanco, Augusto Azuara" sort="Blanco, Augusto Azuara" uniqKey="Blanco A" first="Augusto Azuara" last="Blanco">Augusto Azuara Blanco</name><affiliation><nlm:aff id="af39"><addr-line>School of Medicine, Dentistry and Biomedical Sciences, Centre for Experimental Medicine</addr-line>,<institution>Queen's University Belfast</institution>,<addr-line>Northern Ireland</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Leung, Christopher K S" sort="Leung, Christopher K S" uniqKey="Leung C" first="Christopher K. S." last="Leung">Christopher K. S. Leung</name><affiliation><nlm:aff id="af14"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese Uuniversity of Hong Kong Eye Hospital</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Wong, Tina T" sort="Wong, Tina T" uniqKey="Wong T" first="Tina T." last="Wong">Tina T. Wong</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Yakub, Azhany" sort="Yakub, Azhany" uniqKey="Yakub A" first="Azhany" last="Yakub">Azhany Yakub</name><affiliation><nlm:aff id="af31"><addr-line>Department of Ophthalmology, School of Medical Sciences</addr-line>,<institution>Universiti Sains Malaysia</institution>,<addr-line>Kota Bharu, Kelantan</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation></author><author><name sortKey="Liu, Yutao" sort="Liu, Yutao" uniqKey="Liu Y" first="Yutao" last="Liu">Yutao Liu</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medicine</addr-line>,<institution>Duke University Medical Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af41"><addr-line>Department of Cellular Biology and Anatomy</addr-line>,<institution>Georgia Regents University</institution>,<addr-line>Augusta</addr-line>,<country>Georgia</country>,</nlm:aff></affiliation></author><author><name sortKey="Nongpiur, Monisha E" sort="Nongpiur, Monisha E" uniqKey="Nongpiur M" first="Monisha E." last="Nongpiur">Monisha E. Nongpiur</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Han, Jong Chul" sort="Han, Jong Chul" uniqKey="Han J" first="Jong Chul" last="Han">Jong Chul Han</name><affiliation><nlm:aff id="af15"><addr-line>Department of Ophthalmology, Samsung Medical Center</addr-line>,<institution>Sungkyunkwan University, School of Medicine</institution>,<addr-line>Seoul</addr-line>,<country>Seoul Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Hon, Do Nhu" sort="Hon, Do Nhu" uniqKey="Hon D" first="Do Nhu" last="Hon">Do Nhu Hon</name><affiliation><nlm:aff id="af32"><institution>Vietnam National Institute of Ophthalmology</institution>,<addr-line>Hanoi</addr-line>,<country>Vietnam</country>,</nlm:aff></affiliation></author><author><name sortKey="Shantha, Balekudaru" sort="Shantha, Balekudaru" uniqKey="Shantha B" first="Balekudaru" last="Shantha">Balekudaru Shantha</name><affiliation><nlm:aff id="af42"><institution>Medical Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Zhao, Bowen" sort="Zhao, Bowen" uniqKey="Zhao B" first="Bowen" last="Zhao">Bowen Zhao</name><affiliation><nlm:aff id="af8"><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Sang, Jinghong" sort="Sang, Jinghong" uniqKey="Sang J" first="Jinghong" last="Sang">Jinghong Sang</name><affiliation><nlm:aff id="af8"><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Zhang, Nihong" sort="Zhang, Nihong" uniqKey="Zhang N" first="Nihong" last="Zhang">Nihong Zhang</name><affiliation><nlm:aff id="af8"><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Sato, Ryuichi" sort="Sato, Ryuichi" uniqKey="Sato R" first="Ryuichi" last="Sato">Ryuichi Sato</name><affiliation><nlm:aff id="af5"><addr-line>Department of Genomic Medical Sciences</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Yoshii, Kengo" sort="Yoshii, Kengo" uniqKey="Yoshii K" first="Kengo" last="Yoshii">Kengo Yoshii</name><affiliation><nlm:aff id="af7"><addr-line>Department of Medical Statistics</addr-line>,<institution>Kyoto Prefectural University of Medicine</institution>,<addr-line>Kyoto</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Panda Jonas, Songhomita" sort="Panda Jonas, Songhomita" uniqKey="Panda Jonas S" first="Songhomita" last="Panda-Jonas">Songhomita Panda-Jonas</name><affiliation><nlm:aff id="af43"><addr-line>Department of Ophthalmology</addr-line>,<institution>Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Ashley Koch, Allison E" sort="Ashley Koch, Allison E" uniqKey="Ashley Koch A" first="Allison E." last="Ashley Koch">Allison E. Ashley Koch</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medicine</addr-line>,<institution>Duke University Medical Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Herndon, Leon W" sort="Herndon, Leon W" uniqKey="Herndon L" first="Leon W." last="Herndon">Leon W. Herndon</name><affiliation><nlm:aff id="af4"><addr-line>Department of Ophthalmology</addr-line>,<institution>Duke University Eye Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Moroi, Sayoko E" sort="Moroi, Sayoko E" uniqKey="Moroi S" first="Sayoko E." last="Moroi">Sayoko E. Moroi</name><affiliation><nlm:aff id="af44"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Challa, Pratap" sort="Challa, Pratap" uniqKey="Challa P" first="Pratap" last="Challa">Pratap Challa</name><affiliation><nlm:aff id="af4"><addr-line>Department of Ophthalmology</addr-line>,<institution>Duke University Eye Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Foo, Jia Nee" sort="Foo, Jia Nee" uniqKey="Foo J" first="Jia Nee" last="Foo">Jia Nee Foo</name><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Bei, Jin Xin" sort="Bei, Jin Xin" uniqKey="Bei J" first="Jin-Xin" last="Bei">Jin-Xin Bei</name><affiliation><nlm:aff id="af46"><addr-line>State Key Laboratory of Oncology in Southern China, Guangzhou</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af47"><addr-line>Department of Experimental Research</addr-line>,<institution>Sun Yat-Sen University Cancer Centre</institution>,<addr-line>Guangzhou</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Zeng, Yi Xin" sort="Zeng, Yi Xin" uniqKey="Zeng Y" first="Yi-Xin" last="Zeng">Yi-Xin Zeng</name><affiliation><nlm:aff id="af46"><addr-line>State Key Laboratory of Oncology in Southern China, Guangzhou</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af47"><addr-line>Department of Experimental Research</addr-line>,<institution>Sun Yat-Sen University Cancer Centre</institution>,<addr-line>Guangzhou</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Simmons, Cameron P" sort="Simmons, Cameron P" uniqKey="Simmons C" first="Cameron P." last="Simmons">Cameron P. Simmons</name><affiliation><nlm:aff id="af48"><addr-line>Clinical Research Unit</addr-line>,<institution>Oxford University</institution>,<addr-line>190 Ben Ham Tu, Ho Chi Minh City</addr-line>,<country>Vietnam</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af49"><addr-line>Centre for Tropical Medicine, Nuffield Department of Clinical Medicine</addr-line>,<institution>Oxford University</institution>,<addr-line>Oxford OX3 7LJ</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Bich Chau, Tran Nguyen" sort="Bich Chau, Tran Nguyen" uniqKey="Bich Chau T" first="Tran Nguyen" last="Bich Chau">Tran Nguyen Bich Chau</name><affiliation><nlm:aff id="af48"><addr-line>Clinical Research Unit</addr-line>,<institution>Oxford University</institution>,<addr-line>190 Ben Ham Tu, Ho Chi Minh City</addr-line>,<country>Vietnam</country>,</nlm:aff></affiliation></author><author><name sortKey="Sharmila, Philomenadin Ferdinamarie" sort="Sharmila, Philomenadin Ferdinamarie" uniqKey="Sharmila P" first="Philomenadin Ferdinamarie" last="Sharmila">Philomenadin Ferdinamarie Sharmila</name><affiliation><nlm:aff id="af17"><addr-line>SNONGC Department of Genetics and Molecular Biology</addr-line>,<institution>Vision Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Chew, Merwyn" sort="Chew, Merwyn" uniqKey="Chew M" first="Merwyn" last="Chew">Merwyn Chew</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Lim, Blanche" sort="Lim, Blanche" uniqKey="Lim B" first="Blanche" last="Lim">Blanche Lim</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Tam, Pansy O S" sort="Tam, Pansy O S" uniqKey="Tam P" first="Pansy O. S." last="Tam">Pansy O. S. Tam</name><affiliation><nlm:aff id="af14"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese Uuniversity of Hong Kong Eye Hospital</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Chua, Elaine" sort="Chua, Elaine" uniqKey="Chua E" first="Elaine" last="Chua">Elaine Chua</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ng, Xiao Yu" sort="Ng, Xiao Yu" uniqKey="Ng X" first="Xiao Yu" last="Ng">Xiao Yu Ng</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Yong, Victor H K" sort="Yong, Victor H K" uniqKey="Yong V" first="Victor H. K." last="Yong">Victor H. K. Yong</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Chong, Yaan Fun" sort="Chong, Yaan Fun" uniqKey="Chong Y" first="Yaan Fun" last="Chong">Yaan Fun Chong</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Meah, Wee Yang" sort="Meah, Wee Yang" uniqKey="Meah W" first="Wee Yang" last="Meah">Wee Yang Meah</name><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Vijayan, Saravanan" sort="Vijayan, Saravanan" uniqKey="Vijayan S" first="Saravanan" last="Vijayan">Saravanan Vijayan</name><affiliation><nlm:aff id="af22"><addr-line>Department of Genetics</addr-line>,<institution>Aravind Medical Research Foundation</institution>,<addr-line>Madurai, Tamilnadu</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Seongsoo, Sohn" sort="Seongsoo, Sohn" uniqKey="Seongsoo S" first="Sohn" last="Seongsoo">Sohn Seongsoo</name><affiliation><nlm:aff id="af15"><addr-line>Department of Ophthalmology, Samsung Medical Center</addr-line>,<institution>Sungkyunkwan University, School of Medicine</institution>,<addr-line>Seoul</addr-line>,<country>Seoul Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Xu, Wang" sort="Xu, Wang" uniqKey="Xu W" first="Wang" last="Xu">Wang Xu</name><affiliation><nlm:aff id="af12"><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Teo, Yik Ying" sort="Teo, Yik Ying" uniqKey="Teo Y" first="Yik Ying" last="Teo">Yik Ying Teo</name><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af12"><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Cooke Bailey, Jessica N" sort="Cooke Bailey, Jessica N" uniqKey="Cooke Bailey J" first="Jessica N." last="Cooke Bailey">Jessica N. Cooke Bailey</name><affiliation><nlm:aff id="af50"><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Kang, Jae H" sort="Kang, Jae H" uniqKey="Kang J" first="Jae H." last="Kang">Jae H. Kang</name><affiliation><nlm:aff id="af51"><addr-line>Channing Division of Network Medicine</addr-line>,<institution>Brigham and Women's Hospital</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L." last="Haines">Jonathan L. Haines</name><affiliation><nlm:aff id="af50"><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Cheng, Ching Yu" sort="Cheng, Ching Yu" uniqKey="Cheng C" first="Ching Yu" last="Cheng">Ching Yu Cheng</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Saw, Seang Mei" sort="Saw, Seang Mei" uniqKey="Saw S" first="Seang-Mei" last="Saw">Seang-Mei Saw</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af12"><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Tai, E Shyong" sort="Tai, E Shyong" uniqKey="Tai E" first="E-Shyong" last="Tai">E-Shyong Tai</name><affiliation><nlm:aff id="af52"><addr-line>Department of Medicine</addr-line>,<institution>National University Health System & National University of Singapore</institution>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Richards, Julia E" sort="Richards, Julia E" uniqKey="Richards J" first="Julia E." last="Richards">Julia E. Richards</name><affiliation><nlm:aff id="af44"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af45"><addr-line>Department of Epidemiology</addr-line>,<institution>University of Michigan</institution>,<addr-line>Ann Arbor, MI</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Ritch, Robert" sort="Ritch, Robert" uniqKey="Ritch R" first="Robert" last="Ritch">Robert Ritch</name><affiliation><nlm:aff id="af53"><addr-line>Einhorn Clinical Research Center, Department of Ophthalmology</addr-line>,<institution>New York Eye and Ear Infirmary</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Gaasterland, Douglas E" sort="Gaasterland, Douglas E" uniqKey="Gaasterland D" first="Douglas E." last="Gaasterland">Douglas E. Gaasterland</name><affiliation><nlm:aff id="af54"><institution>Eye Doctors of Washington DC</institution>,<addr-line>Washington, DC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Pasquale, Louis R" sort="Pasquale, Louis R" uniqKey="Pasquale L" first="Louis R." last="Pasquale">Louis R. Pasquale</name><affiliation><nlm:aff id="af51"><addr-line>Channing Division of Network Medicine</addr-line>,<institution>Brigham and Women's Hospital</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af55"><addr-line>Department of Ophthalmology, Harvard Medical School</addr-line>,<institution>Massachusetts Eye and Ear Infirmary</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Liu, Jianjun" sort="Liu, Jianjun" uniqKey="Liu J" first="Jianjun" last="Liu">Jianjun Liu</name><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Jonas, Jost B" sort="Jonas, Jost B" uniqKey="Jonas J" first="Jost B." last="Jonas">Jost B. Jonas</name><affiliation><nlm:aff id="af43"><addr-line>Department of Ophthalmology</addr-line>,<institution>Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Milea, Dan" sort="Milea, Dan" uniqKey="Milea D" first="Dan" last="Milea">Dan Milea</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="George, Ronnie" sort="George, Ronnie" uniqKey="George R" first="Ronnie" last="George">Ronnie George</name><affiliation><nlm:aff id="af42"><institution>Medical Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Al Obeidan, Saleh A" sort="Al Obeidan, Saleh A" uniqKey="Al Obeidan S" first="Saleh A." last="Al-Obeidan">Saleh A. Al-Obeidan</name><affiliation><nlm:aff id="af19"><addr-line>Department of Ophthalmology</addr-line>,<institution>College of Medicine</institution>,<institution>King Saud University</institution>,<addr-line>Riyadh</addr-line>,<country>Saudi Arabia</country>,</nlm:aff></affiliation></author><author><name sortKey="Mori, Kazuhiko" sort="Mori, Kazuhiko" uniqKey="Mori K" first="Kazuhiko" last="Mori">Kazuhiko Mori</name><affiliation><nlm:aff id="af6"><addr-line>Department of Ophthalmology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Macgregor, Stuart" sort="Macgregor, Stuart" uniqKey="Macgregor S" first="Stuart" last="Macgregor">Stuart Macgregor</name><affiliation><nlm:aff id="af25"><addr-line>Department of Genetics and Computational Biology, Statistical Genetics</addr-line>,<institution>QIMR Berghofer Medical Research Institute</institution>,<addr-line>Brisbane, QLD</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Hewitt, Alex W" sort="Hewitt, Alex W" uniqKey="Hewitt A" first="Alex W." last="Hewitt">Alex W. Hewitt</name><affiliation><nlm:aff id="af23"><institution>Menzies Institute for Medical Research</institution>,<institution>University of Tasmania</institution>,<addr-line>Hobart</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af56"><institution>Centre for Eye Research Australia (CERA)</institution>,<institution>University of Melbourne</institution>,<institution>Royal Victorian Eye and Ear Hospital</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Girkin, Christopher A" sort="Girkin, Christopher A" uniqKey="Girkin C" first="Christopher A." last="Girkin">Christopher A. Girkin</name><affiliation><nlm:aff id="af57"><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Alabama at Birmingham</institution>,<addr-line>Birmingham, AL</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Zhang, Mingzhi" sort="Zhang, Mingzhi" uniqKey="Zhang M" first="Mingzhi" last="Zhang">Mingzhi Zhang</name><affiliation><nlm:aff id="af21"><addr-line>Chinese University of Hong Kong Joint Shantou International Eye Center</addr-line>,<institution>Shantou University</institution>,<addr-line>Shantou</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Sundaresan, Periasamy" sort="Sundaresan, Periasamy" uniqKey="Sundaresan P" first="Periasamy" last="Sundaresan">Periasamy Sundaresan</name><affiliation><nlm:aff id="af22"><addr-line>Department of Genetics</addr-line>,<institution>Aravind Medical Research Foundation</institution>,<addr-line>Madurai, Tamilnadu</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Vijaya, Lingam" sort="Vijaya, Lingam" uniqKey="Vijaya L" first="Lingam" last="Vijaya">Lingam Vijaya</name><affiliation><nlm:aff id="af42"><institution>Medical Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Mackey, David A" sort="Mackey, David A" uniqKey="Mackey D" first="David A." last="Mackey">David A. Mackey</name><affiliation><nlm:aff id="af23"><institution>Menzies Institute for Medical Research</institution>,<institution>University of Tasmania</institution>,<addr-line>Hobart</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af58"><addr-line>Centre for Ophthalmology and Visual Science</addr-line>,<institution>Lions Eye Institute, University of Western Australia</institution>,<addr-line>Perth, WA</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Wong, Tien Yin" sort="Wong, Tien Yin" uniqKey="Wong T" first="Tien Yin" last="Wong">Tien Yin Wong</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Craig, Jamie E" sort="Craig, Jamie E" uniqKey="Craig J" first="Jamie E." last="Craig">Jamie E. Craig</name><affiliation><nlm:aff id="af24"><addr-line>Department of Ophthalmology</addr-line>,<institution>Flinders University</institution>,<addr-line>Adelaide</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Sun, Xinghuai" sort="Sun, Xinghuai" uniqKey="Sun X" first="Xinghuai" last="Sun">Xinghuai Sun</name><affiliation><nlm:aff id="af9"><addr-line>Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical School</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af10"><addr-line>State Key Laboratory of Medical Neurobiology, Institutes of Brain Science</addr-line>,<institution>Fudan University</institution>,<addr-line>Shanghai</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af59"><addr-line>Myopia Key Laboratory of the Ministry of Health of China, Shanghai</addr-line>,<country>China</country></nlm:aff></affiliation></author><author><name sortKey="Kinoshita, Shigeru" sort="Kinoshita, Shigeru" uniqKey="Kinoshita S" first="Shigeru" last="Kinoshita">Shigeru Kinoshita</name><affiliation><nlm:aff id="af6"><addr-line>Department of Ophthalmology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Wiggs, Janey L" sort="Wiggs, Janey L" uniqKey="Wiggs J" first="Janey L." last="Wiggs">Janey L. Wiggs</name><affiliation><nlm:aff id="af57"><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Alabama at Birmingham</institution>,<addr-line>Birmingham, AL</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Khor, Chiea Chuen" sort="Khor, Chiea Chuen" uniqKey="Khor C" first="Chiea-Chuen" last="Khor">Chiea-Chuen Khor</name><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Yang, Zhenglin" sort="Yang, Zhenglin" uniqKey="Yang Z" first="Zhenglin" last="Yang">Zhenglin Yang</name><affiliation><nlm:aff id="af26"><addr-line>Sichuan Provincial Key Laboratory for Human Disease Gene Study</addr-line>,<institution>Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital</institution>,<addr-line>Chengdu</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af27"><addr-line>School of Medicine</addr-line>,<institution>University of Electronic Science and Technology of China</institution>,<addr-line>Chengdu</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af60"><addr-line>Chinese Academy of Sciences</addr-line>,<institution>Sichuan Translational Medicine Hospital</institution>,<addr-line>Chengdu</addr-line>,<country>China</country></nlm:aff></affiliation></author><author><name sortKey="Pang, Chi Pui" sort="Pang, Chi Pui" uniqKey="Pang C" first="Chi Pui" last="Pang">Chi Pui Pang</name><affiliation><nlm:aff id="af14"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese Uuniversity of Hong Kong Eye Hospital</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Wang, Ningli" sort="Wang, Ningli" uniqKey="Wang N" first="Ningli" last="Wang">Ningli Wang</name><affiliation><nlm:aff id="af8"><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Hauser, Michael A" sort="Hauser, Michael A" uniqKey="Hauser M" first="Michael A." last="Hauser">Michael A. Hauser</name><affiliation><nlm:aff id="af4"><addr-line>Department of Ophthalmology</addr-line>,<institution>Duke University Eye Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af40"><addr-line>Department of Medicine</addr-line>,<institution>Duke University Medical Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Tashiro, Kei" sort="Tashiro, Kei" uniqKey="Tashiro K" first="Kei" last="Tashiro">Kei Tashiro</name><affiliation><nlm:aff id="af5"><addr-line>Department of Genomic Medical Sciences</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Aung, Tin" sort="Aung, Tin" uniqKey="Aung T" first="Tin" last="Aung">Tin Aung</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Vithana, Eranga N" sort="Vithana, Eranga N" uniqKey="Vithana E" first="Eranga N." last="Vithana">Eranga N. Vithana</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25861811</idno><idno type="pmc">4459396</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459396</idno><idno type="RBID">PMC:4459396</idno><idno type="doi">10.1093/hmg/ddv128</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000276</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000276</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A common variant near <italic>TGFBR3</italic> is associated with primary open angle glaucoma</title><author><name sortKey="Li, Zheng" sort="Li, Zheng" uniqKey="Li Z" first="Zheng" last="Li">Zheng Li</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Allingham, R Rand" sort="Allingham, R Rand" uniqKey="Allingham R" first="R. Rand" last="Allingham">R. Rand Allingham</name><affiliation><nlm:aff id="af4"><addr-line>Department of Ophthalmology</addr-line>,<institution>Duke University Eye Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Nakano, Masakazu" sort="Nakano, Masakazu" uniqKey="Nakano M" first="Masakazu" last="Nakano">Masakazu Nakano</name><affiliation><nlm:aff id="af5"><addr-line>Department of Genomic Medical Sciences</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Jia, Liyun" sort="Jia, Liyun" uniqKey="Jia L" first="Liyun" last="Jia">Liyun Jia</name><affiliation><nlm:aff id="af8"><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Chen, Yuhong" sort="Chen, Yuhong" uniqKey="Chen Y" first="Yuhong" last="Chen">Yuhong Chen</name><affiliation><nlm:aff id="af9"><addr-line>Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical School</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ikeda, Yoko" sort="Ikeda, Yoko" uniqKey="Ikeda Y" first="Yoko" last="Ikeda">Yoko Ikeda</name><affiliation><nlm:aff id="af6"><addr-line>Department of Ophthalmology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Mani, Baskaran" sort="Mani, Baskaran" uniqKey="Mani B" first="Baskaran" last="Mani">Baskaran Mani</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Chen, Li Jia" sort="Chen, Li Jia" uniqKey="Chen L" first="Li-Jia" last="Chen">Li-Jia Chen</name><affiliation><nlm:aff id="af14"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese Uuniversity of Hong Kong Eye Hospital</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Kee, Changwon" sort="Kee, Changwon" uniqKey="Kee C" first="Changwon" last="Kee">Changwon Kee</name><affiliation><nlm:aff id="af15"><addr-line>Department of Ophthalmology, Samsung Medical Center</addr-line>,<institution>Sungkyunkwan University, School of Medicine</institution>,<addr-line>Seoul</addr-line>,<country>Seoul Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Garway Heath, David F" sort="Garway Heath, David F" uniqKey="Garway Heath D" first="David F." last="Garway-Heath">David F. Garway-Heath</name><affiliation><nlm:aff id="af16"><institution>National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and University College London Institute of Ophthalmology</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Sripriya, Sarangapani" sort="Sripriya, Sarangapani" uniqKey="Sripriya S" first="Sarangapani" last="Sripriya">Sarangapani Sripriya</name><affiliation><nlm:aff id="af17"><addr-line>SNONGC Department of Genetics and Molecular Biology</addr-line>,<institution>Vision Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Fuse, Nobuo" sort="Fuse, Nobuo" uniqKey="Fuse N" first="Nobuo" last="Fuse">Nobuo Fuse</name><affiliation><nlm:aff id="af18"><addr-line>Department of Integrative Genomics</addr-line>,<institution>Tohoku Medical Megabank Organization</institution>,<addr-line>Sendai</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Abu Amero, Khaled K" sort="Abu Amero, Khaled K" uniqKey="Abu Amero K" first="Khaled K." last="Abu-Amero">Khaled K. Abu-Amero</name><affiliation><nlm:aff id="af19"><addr-line>Department of Ophthalmology</addr-line>,<institution>College of Medicine</institution>,<institution>King Saud University</institution>,<addr-line>Riyadh</addr-line>,<country>Saudi Arabia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af20"><addr-line>Department of Ophthalmology</addr-line>,<institution>College of Medicine</institution>,<institution>University of Florida</institution>,<addr-line>Jacksonville, FL</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Huang, Chukai" sort="Huang, Chukai" uniqKey="Huang C" first="Chukai" last="Huang">Chukai Huang</name><affiliation><nlm:aff id="af21"><addr-line>Chinese University of Hong Kong Joint Shantou International Eye Center</addr-line>,<institution>Shantou University</institution>,<addr-line>Shantou</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Namburi, Prasanthi" sort="Namburi, Prasanthi" uniqKey="Namburi P" first="Prasanthi" last="Namburi">Prasanthi Namburi</name><affiliation><nlm:aff id="af22"><addr-line>Department of Genetics</addr-line>,<institution>Aravind Medical Research Foundation</institution>,<addr-line>Madurai, Tamilnadu</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Burdon, Kathryn" sort="Burdon, Kathryn" uniqKey="Burdon K" first="Kathryn" last="Burdon">Kathryn Burdon</name><affiliation><nlm:aff id="af23"><institution>Menzies Institute for Medical Research</institution>,<institution>University of Tasmania</institution>,<addr-line>Hobart</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af24"><addr-line>Department of Ophthalmology</addr-line>,<institution>Flinders University</institution>,<addr-line>Adelaide</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Perera, Shamira A" sort="Perera, Shamira A" uniqKey="Perera S" first="Shamira A." last="Perera">Shamira A. Perera</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Gharahkhani, Puya" sort="Gharahkhani, Puya" uniqKey="Gharahkhani P" first="Puya" last="Gharahkhani">Puya Gharahkhani</name><affiliation><nlm:aff id="af25"><addr-line>Department of Genetics and Computational Biology, Statistical Genetics</addr-line>,<institution>QIMR Berghofer Medical Research Institute</institution>,<addr-line>Brisbane, QLD</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Lin, Ying" sort="Lin, Ying" uniqKey="Lin Y" first="Ying" last="Lin">Ying Lin</name><affiliation><nlm:aff id="af26"><addr-line>Sichuan Provincial Key Laboratory for Human Disease Gene Study</addr-line>,<institution>Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital</institution>,<addr-line>Chengdu</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af27"><addr-line>School of Medicine</addr-line>,<institution>University of Electronic Science and Technology of China</institution>,<addr-line>Chengdu</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Ueno, Morio" sort="Ueno, Morio" uniqKey="Ueno M" first="Morio" last="Ueno">Morio Ueno</name><affiliation><nlm:aff id="af6"><addr-line>Department of Ophthalmology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ozaki, Mineo" sort="Ozaki, Mineo" uniqKey="Ozaki M" first="Mineo" last="Ozaki">Mineo Ozaki</name><affiliation><nlm:aff id="af28"><institution>Ozaki Eye Hospital</institution>,<addr-line>1–15, Kamezaki, Hyuga, Miyazaki 883-0066</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Mizoguchi, Takanori" sort="Mizoguchi, Takanori" uniqKey="Mizoguchi T" first="Takanori" last="Mizoguchi">Takanori Mizoguchi</name><affiliation><nlm:aff id="af29"><institution>Mizoguchi Eye Hospital</institution>,<addr-line>6-13 Tawara-machi, Sasebo, Nagasaki 857-0016</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Krishnadas, Subbiah Ramasamy" sort="Krishnadas, Subbiah Ramasamy" uniqKey="Krishnadas S" first="Subbiah Ramasamy" last="Krishnadas">Subbiah Ramasamy Krishnadas</name><affiliation><nlm:aff id="af30"><addr-line>Glaucoma Services</addr-line>,<institution>Aravind Eye Hospital</institution>,<addr-line>Madurai, Tamilnadu</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Osman, Essam A" sort="Osman, Essam A" uniqKey="Osman E" first="Essam A." last="Osman">Essam A. Osman</name><affiliation><nlm:aff id="af19"><addr-line>Department of Ophthalmology</addr-line>,<institution>College of Medicine</institution>,<institution>King Saud University</institution>,<addr-line>Riyadh</addr-line>,<country>Saudi Arabia</country>,</nlm:aff></affiliation></author><author><name sortKey="Lee, Mei Chin" sort="Lee, Mei Chin" uniqKey="Lee M" first="Mei Chin" last="Lee">Mei Chin Lee</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Chan, Anita S Y" sort="Chan, Anita S Y" uniqKey="Chan A" first="Anita S. Y." last="Chan">Anita S. Y. Chan</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Tajudin, Liza Sharmini A" sort="Tajudin, Liza Sharmini A" uniqKey="Tajudin L" first="Liza-Sharmini A." last="Tajudin">Liza-Sharmini A. Tajudin</name><affiliation><nlm:aff id="af31"><addr-line>Department of Ophthalmology, School of Medical Sciences</addr-line>,<institution>Universiti Sains Malaysia</institution>,<addr-line>Kota Bharu, Kelantan</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation></author><author><name sortKey="Do, Tan" sort="Do, Tan" uniqKey="Do T" first="Tan" last="Do">Tan Do</name><affiliation><nlm:aff id="af32"><institution>Vietnam National Institute of Ophthalmology</institution>,<addr-line>Hanoi</addr-line>,<country>Vietnam</country>,</nlm:aff></affiliation></author><author><name sortKey="Goncalves, Aurelien" sort="Goncalves, Aurelien" uniqKey="Goncalves A" first="Aurelien" last="Goncalves">Aurelien Goncalves</name><affiliation><nlm:aff id="af33"><addr-line>Ophthalmology Department</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Reynier, Pascal" sort="Reynier, Pascal" uniqKey="Reynier P" first="Pascal" last="Reynier">Pascal Reynier</name><affiliation><nlm:aff id="af34"><addr-line>Biochemistry Department</addr-line>,<institution>Angers University Hospital</institution>,<addr-line>Angers</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Zhang, Hong" sort="Zhang, Hong" uniqKey="Zhang H" first="Hong" last="Zhang">Hong Zhang</name><affiliation><nlm:aff id="af35"><addr-line>Department of Ophthalmology, Tongji Hospital of Tongji Medical College</addr-line>,<institution>Huazhong University of Science and Technology</institution>,<addr-line>Wuhan</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Bourne, Rupert" sort="Bourne, Rupert" uniqKey="Bourne R" first="Rupert" last="Bourne">Rupert Bourne</name><affiliation><nlm:aff id="af36"><addr-line>Huntingdon Glaucoma Diagnostic & Research Centre</addr-line>,<institution>Hinchingbrooke Hospital</institution>,<addr-line>Huntingdon</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Goh, David" sort="Goh, David" uniqKey="Goh D" first="David" last="Goh">David Goh</name><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Broadway, David" sort="Broadway, David" uniqKey="Broadway D" first="David" last="Broadway">David Broadway</name><affiliation><nlm:aff id="af37"><institution>Norfolk & Norwich University Hospital NHS Trust</institution>,<addr-line>Norwich</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Husain, Rahat" sort="Husain, Rahat" uniqKey="Husain R" first="Rahat" last="Husain">Rahat Husain</name><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Negi, Anil K" sort="Negi, Anil K" uniqKey="Negi A" first="Anil K." last="Negi">Anil K. Negi</name><affiliation><nlm:aff id="af38"><institution>Heart of UK NHS Foundation Trust</institution>,<addr-line>Birmingham</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Su, Daniel H" sort="Su, Daniel H" uniqKey="Su D" first="Daniel H" last="Su">Daniel H. Su</name><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Ho, Ching Lin" sort="Ho, Ching Lin" uniqKey="Ho C" first="Ching-Lin" last="Ho">Ching-Lin Ho</name><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Blanco, Augusto Azuara" sort="Blanco, Augusto Azuara" uniqKey="Blanco A" first="Augusto Azuara" last="Blanco">Augusto Azuara Blanco</name><affiliation><nlm:aff id="af39"><addr-line>School of Medicine, Dentistry and Biomedical Sciences, Centre for Experimental Medicine</addr-line>,<institution>Queen's University Belfast</institution>,<addr-line>Northern Ireland</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Leung, Christopher K S" sort="Leung, Christopher K S" uniqKey="Leung C" first="Christopher K. S." last="Leung">Christopher K. S. Leung</name><affiliation><nlm:aff id="af14"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese Uuniversity of Hong Kong Eye Hospital</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Wong, Tina T" sort="Wong, Tina T" uniqKey="Wong T" first="Tina T." last="Wong">Tina T. Wong</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Yakub, Azhany" sort="Yakub, Azhany" uniqKey="Yakub A" first="Azhany" last="Yakub">Azhany Yakub</name><affiliation><nlm:aff id="af31"><addr-line>Department of Ophthalmology, School of Medical Sciences</addr-line>,<institution>Universiti Sains Malaysia</institution>,<addr-line>Kota Bharu, Kelantan</addr-line>,<country>Malaysia</country>,</nlm:aff></affiliation></author><author><name sortKey="Liu, Yutao" sort="Liu, Yutao" uniqKey="Liu Y" first="Yutao" last="Liu">Yutao Liu</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medicine</addr-line>,<institution>Duke University Medical Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af41"><addr-line>Department of Cellular Biology and Anatomy</addr-line>,<institution>Georgia Regents University</institution>,<addr-line>Augusta</addr-line>,<country>Georgia</country>,</nlm:aff></affiliation></author><author><name sortKey="Nongpiur, Monisha E" sort="Nongpiur, Monisha E" uniqKey="Nongpiur M" first="Monisha E." last="Nongpiur">Monisha E. Nongpiur</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Han, Jong Chul" sort="Han, Jong Chul" uniqKey="Han J" first="Jong Chul" last="Han">Jong Chul Han</name><affiliation><nlm:aff id="af15"><addr-line>Department of Ophthalmology, Samsung Medical Center</addr-line>,<institution>Sungkyunkwan University, School of Medicine</institution>,<addr-line>Seoul</addr-line>,<country>Seoul Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Hon, Do Nhu" sort="Hon, Do Nhu" uniqKey="Hon D" first="Do Nhu" last="Hon">Do Nhu Hon</name><affiliation><nlm:aff id="af32"><institution>Vietnam National Institute of Ophthalmology</institution>,<addr-line>Hanoi</addr-line>,<country>Vietnam</country>,</nlm:aff></affiliation></author><author><name sortKey="Shantha, Balekudaru" sort="Shantha, Balekudaru" uniqKey="Shantha B" first="Balekudaru" last="Shantha">Balekudaru Shantha</name><affiliation><nlm:aff id="af42"><institution>Medical Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Zhao, Bowen" sort="Zhao, Bowen" uniqKey="Zhao B" first="Bowen" last="Zhao">Bowen Zhao</name><affiliation><nlm:aff id="af8"><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Sang, Jinghong" sort="Sang, Jinghong" uniqKey="Sang J" first="Jinghong" last="Sang">Jinghong Sang</name><affiliation><nlm:aff id="af8"><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Zhang, Nihong" sort="Zhang, Nihong" uniqKey="Zhang N" first="Nihong" last="Zhang">Nihong Zhang</name><affiliation><nlm:aff id="af8"><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Sato, Ryuichi" sort="Sato, Ryuichi" uniqKey="Sato R" first="Ryuichi" last="Sato">Ryuichi Sato</name><affiliation><nlm:aff id="af5"><addr-line>Department of Genomic Medical Sciences</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Yoshii, Kengo" sort="Yoshii, Kengo" uniqKey="Yoshii K" first="Kengo" last="Yoshii">Kengo Yoshii</name><affiliation><nlm:aff id="af7"><addr-line>Department of Medical Statistics</addr-line>,<institution>Kyoto Prefectural University of Medicine</institution>,<addr-line>Kyoto</addr-line>,<country>Japan</country>,</nlm:aff></affiliation></author><author><name sortKey="Panda Jonas, Songhomita" sort="Panda Jonas, Songhomita" uniqKey="Panda Jonas S" first="Songhomita" last="Panda-Jonas">Songhomita Panda-Jonas</name><affiliation><nlm:aff id="af43"><addr-line>Department of Ophthalmology</addr-line>,<institution>Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Ashley Koch, Allison E" sort="Ashley Koch, Allison E" uniqKey="Ashley Koch A" first="Allison E." last="Ashley Koch">Allison E. Ashley Koch</name><affiliation><nlm:aff id="af40"><addr-line>Department of Medicine</addr-line>,<institution>Duke University Medical Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Herndon, Leon W" sort="Herndon, Leon W" uniqKey="Herndon L" first="Leon W." last="Herndon">Leon W. Herndon</name><affiliation><nlm:aff id="af4"><addr-line>Department of Ophthalmology</addr-line>,<institution>Duke University Eye Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Moroi, Sayoko E" sort="Moroi, Sayoko E" uniqKey="Moroi S" first="Sayoko E." last="Moroi">Sayoko E. Moroi</name><affiliation><nlm:aff id="af44"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Challa, Pratap" sort="Challa, Pratap" uniqKey="Challa P" first="Pratap" last="Challa">Pratap Challa</name><affiliation><nlm:aff id="af4"><addr-line>Department of Ophthalmology</addr-line>,<institution>Duke University Eye Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Foo, Jia Nee" sort="Foo, Jia Nee" uniqKey="Foo J" first="Jia Nee" last="Foo">Jia Nee Foo</name><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Bei, Jin Xin" sort="Bei, Jin Xin" uniqKey="Bei J" first="Jin-Xin" last="Bei">Jin-Xin Bei</name><affiliation><nlm:aff id="af46"><addr-line>State Key Laboratory of Oncology in Southern China, Guangzhou</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af47"><addr-line>Department of Experimental Research</addr-line>,<institution>Sun Yat-Sen University Cancer Centre</institution>,<addr-line>Guangzhou</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Zeng, Yi Xin" sort="Zeng, Yi Xin" uniqKey="Zeng Y" first="Yi-Xin" last="Zeng">Yi-Xin Zeng</name><affiliation><nlm:aff id="af46"><addr-line>State Key Laboratory of Oncology in Southern China, Guangzhou</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af47"><addr-line>Department of Experimental Research</addr-line>,<institution>Sun Yat-Sen University Cancer Centre</institution>,<addr-line>Guangzhou</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Simmons, Cameron P" sort="Simmons, Cameron P" uniqKey="Simmons C" first="Cameron P." last="Simmons">Cameron P. Simmons</name><affiliation><nlm:aff id="af48"><addr-line>Clinical Research Unit</addr-line>,<institution>Oxford University</institution>,<addr-line>190 Ben Ham Tu, Ho Chi Minh City</addr-line>,<country>Vietnam</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af49"><addr-line>Centre for Tropical Medicine, Nuffield Department of Clinical Medicine</addr-line>,<institution>Oxford University</institution>,<addr-line>Oxford OX3 7LJ</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Bich Chau, Tran Nguyen" sort="Bich Chau, Tran Nguyen" uniqKey="Bich Chau T" first="Tran Nguyen" last="Bich Chau">Tran Nguyen Bich Chau</name><affiliation><nlm:aff id="af48"><addr-line>Clinical Research Unit</addr-line>,<institution>Oxford University</institution>,<addr-line>190 Ben Ham Tu, Ho Chi Minh City</addr-line>,<country>Vietnam</country>,</nlm:aff></affiliation></author><author><name sortKey="Sharmila, Philomenadin Ferdinamarie" sort="Sharmila, Philomenadin Ferdinamarie" uniqKey="Sharmila P" first="Philomenadin Ferdinamarie" last="Sharmila">Philomenadin Ferdinamarie Sharmila</name><affiliation><nlm:aff id="af17"><addr-line>SNONGC Department of Genetics and Molecular Biology</addr-line>,<institution>Vision Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Chew, Merwyn" sort="Chew, Merwyn" uniqKey="Chew M" first="Merwyn" last="Chew">Merwyn Chew</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Lim, Blanche" sort="Lim, Blanche" uniqKey="Lim B" first="Blanche" last="Lim">Blanche Lim</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Tam, Pansy O S" sort="Tam, Pansy O S" uniqKey="Tam P" first="Pansy O. S." last="Tam">Pansy O. S. Tam</name><affiliation><nlm:aff id="af14"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese Uuniversity of Hong Kong Eye Hospital</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Chua, Elaine" sort="Chua, Elaine" uniqKey="Chua E" first="Elaine" last="Chua">Elaine Chua</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ng, Xiao Yu" sort="Ng, Xiao Yu" uniqKey="Ng X" first="Xiao Yu" last="Ng">Xiao Yu Ng</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Yong, Victor H K" sort="Yong, Victor H K" uniqKey="Yong V" first="Victor H. K." last="Yong">Victor H. K. Yong</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Chong, Yaan Fun" sort="Chong, Yaan Fun" uniqKey="Chong Y" first="Yaan Fun" last="Chong">Yaan Fun Chong</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Meah, Wee Yang" sort="Meah, Wee Yang" uniqKey="Meah W" first="Wee Yang" last="Meah">Wee Yang Meah</name><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Vijayan, Saravanan" sort="Vijayan, Saravanan" uniqKey="Vijayan S" first="Saravanan" last="Vijayan">Saravanan Vijayan</name><affiliation><nlm:aff id="af22"><addr-line>Department of Genetics</addr-line>,<institution>Aravind Medical Research Foundation</institution>,<addr-line>Madurai, Tamilnadu</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Seongsoo, Sohn" sort="Seongsoo, Sohn" uniqKey="Seongsoo S" first="Sohn" last="Seongsoo">Sohn Seongsoo</name><affiliation><nlm:aff id="af15"><addr-line>Department of Ophthalmology, Samsung Medical Center</addr-line>,<institution>Sungkyunkwan University, School of Medicine</institution>,<addr-line>Seoul</addr-line>,<country>Seoul Korea</country>,</nlm:aff></affiliation></author><author><name sortKey="Xu, Wang" sort="Xu, Wang" uniqKey="Xu W" first="Wang" last="Xu">Wang Xu</name><affiliation><nlm:aff id="af12"><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Teo, Yik Ying" sort="Teo, Yik Ying" uniqKey="Teo Y" first="Yik Ying" last="Teo">Yik Ying Teo</name><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af12"><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Cooke Bailey, Jessica N" sort="Cooke Bailey, Jessica N" uniqKey="Cooke Bailey J" first="Jessica N." last="Cooke Bailey">Jessica N. Cooke Bailey</name><affiliation><nlm:aff id="af50"><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Kang, Jae H" sort="Kang, Jae H" uniqKey="Kang J" first="Jae H." last="Kang">Jae H. Kang</name><affiliation><nlm:aff id="af51"><addr-line>Channing Division of Network Medicine</addr-line>,<institution>Brigham and Women's Hospital</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Haines, Jonathan L" sort="Haines, Jonathan L" uniqKey="Haines J" first="Jonathan L." last="Haines">Jonathan L. Haines</name><affiliation><nlm:aff id="af50"><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Cheng, Ching Yu" sort="Cheng, Ching Yu" uniqKey="Cheng C" first="Ching Yu" last="Cheng">Ching Yu Cheng</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Saw, Seang Mei" sort="Saw, Seang Mei" uniqKey="Saw S" first="Seang-Mei" last="Saw">Seang-Mei Saw</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af12"><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Tai, E Shyong" sort="Tai, E Shyong" uniqKey="Tai E" first="E-Shyong" last="Tai">E-Shyong Tai</name><affiliation><nlm:aff id="af52"><addr-line>Department of Medicine</addr-line>,<institution>National University Health System & National University of Singapore</institution>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Richards, Julia E" sort="Richards, Julia E" uniqKey="Richards J" first="Julia E." last="Richards">Julia E. Richards</name><affiliation><nlm:aff id="af44"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af45"><addr-line>Department of Epidemiology</addr-line>,<institution>University of Michigan</institution>,<addr-line>Ann Arbor, MI</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Ritch, Robert" sort="Ritch, Robert" uniqKey="Ritch R" first="Robert" last="Ritch">Robert Ritch</name><affiliation><nlm:aff id="af53"><addr-line>Einhorn Clinical Research Center, Department of Ophthalmology</addr-line>,<institution>New York Eye and Ear Infirmary</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Gaasterland, Douglas E" sort="Gaasterland, Douglas E" uniqKey="Gaasterland D" first="Douglas E." last="Gaasterland">Douglas E. Gaasterland</name><affiliation><nlm:aff id="af54"><institution>Eye Doctors of Washington DC</institution>,<addr-line>Washington, DC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Pasquale, Louis R" sort="Pasquale, Louis R" uniqKey="Pasquale L" first="Louis R." last="Pasquale">Louis R. Pasquale</name><affiliation><nlm:aff id="af51"><addr-line>Channing Division of Network Medicine</addr-line>,<institution>Brigham and Women's Hospital</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af55"><addr-line>Department of Ophthalmology, Harvard Medical School</addr-line>,<institution>Massachusetts Eye and Ear Infirmary</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Liu, Jianjun" sort="Liu, Jianjun" uniqKey="Liu J" first="Jianjun" last="Liu">Jianjun Liu</name><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Jonas, Jost B" sort="Jonas, Jost B" uniqKey="Jonas J" first="Jost B." last="Jonas">Jost B. Jonas</name><affiliation><nlm:aff id="af43"><addr-line>Department of Ophthalmology</addr-line>,<institution>Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Milea, Dan" sort="Milea, Dan" uniqKey="Milea D" first="Dan" last="Milea">Dan Milea</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="George, Ronnie" sort="George, Ronnie" uniqKey="George R" first="Ronnie" last="George">Ronnie George</name><affiliation><nlm:aff id="af42"><institution>Medical Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Al Obeidan, Saleh A" sort="Al Obeidan, Saleh A" uniqKey="Al Obeidan S" first="Saleh A." last="Al-Obeidan">Saleh A. Al-Obeidan</name><affiliation><nlm:aff id="af19"><addr-line>Department of Ophthalmology</addr-line>,<institution>College of Medicine</institution>,<institution>King Saud University</institution>,<addr-line>Riyadh</addr-line>,<country>Saudi Arabia</country>,</nlm:aff></affiliation></author><author><name sortKey="Mori, Kazuhiko" sort="Mori, Kazuhiko" uniqKey="Mori K" first="Kazuhiko" last="Mori">Kazuhiko Mori</name><affiliation><nlm:aff id="af6"><addr-line>Department of Ophthalmology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Macgregor, Stuart" sort="Macgregor, Stuart" uniqKey="Macgregor S" first="Stuart" last="Macgregor">Stuart Macgregor</name><affiliation><nlm:aff id="af25"><addr-line>Department of Genetics and Computational Biology, Statistical Genetics</addr-line>,<institution>QIMR Berghofer Medical Research Institute</institution>,<addr-line>Brisbane, QLD</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Hewitt, Alex W" sort="Hewitt, Alex W" uniqKey="Hewitt A" first="Alex W." last="Hewitt">Alex W. Hewitt</name><affiliation><nlm:aff id="af23"><institution>Menzies Institute for Medical Research</institution>,<institution>University of Tasmania</institution>,<addr-line>Hobart</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af56"><institution>Centre for Eye Research Australia (CERA)</institution>,<institution>University of Melbourne</institution>,<institution>Royal Victorian Eye and Ear Hospital</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Girkin, Christopher A" sort="Girkin, Christopher A" uniqKey="Girkin C" first="Christopher A." last="Girkin">Christopher A. Girkin</name><affiliation><nlm:aff id="af57"><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Alabama at Birmingham</institution>,<addr-line>Birmingham, AL</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Zhang, Mingzhi" sort="Zhang, Mingzhi" uniqKey="Zhang M" first="Mingzhi" last="Zhang">Mingzhi Zhang</name><affiliation><nlm:aff id="af21"><addr-line>Chinese University of Hong Kong Joint Shantou International Eye Center</addr-line>,<institution>Shantou University</institution>,<addr-line>Shantou</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Sundaresan, Periasamy" sort="Sundaresan, Periasamy" uniqKey="Sundaresan P" first="Periasamy" last="Sundaresan">Periasamy Sundaresan</name><affiliation><nlm:aff id="af22"><addr-line>Department of Genetics</addr-line>,<institution>Aravind Medical Research Foundation</institution>,<addr-line>Madurai, Tamilnadu</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Vijaya, Lingam" sort="Vijaya, Lingam" uniqKey="Vijaya L" first="Lingam" last="Vijaya">Lingam Vijaya</name><affiliation><nlm:aff id="af42"><institution>Medical Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</nlm:aff></affiliation></author><author><name sortKey="Mackey, David A" sort="Mackey, David A" uniqKey="Mackey D" first="David A." last="Mackey">David A. Mackey</name><affiliation><nlm:aff id="af23"><institution>Menzies Institute for Medical Research</institution>,<institution>University of Tasmania</institution>,<addr-line>Hobart</addr-line>,<country>Australia</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af58"><addr-line>Centre for Ophthalmology and Visual Science</addr-line>,<institution>Lions Eye Institute, University of Western Australia</institution>,<addr-line>Perth, WA</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Wong, Tien Yin" sort="Wong, Tien Yin" uniqKey="Wong T" first="Tien Yin" last="Wong">Tien Yin Wong</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Craig, Jamie E" sort="Craig, Jamie E" uniqKey="Craig J" first="Jamie E." last="Craig">Jamie E. Craig</name><affiliation><nlm:aff id="af24"><addr-line>Department of Ophthalmology</addr-line>,<institution>Flinders University</institution>,<addr-line>Adelaide</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Sun, Xinghuai" sort="Sun, Xinghuai" uniqKey="Sun X" first="Xinghuai" last="Sun">Xinghuai Sun</name><affiliation><nlm:aff id="af9"><addr-line>Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical School</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af10"><addr-line>State Key Laboratory of Medical Neurobiology, Institutes of Brain Science</addr-line>,<institution>Fudan University</institution>,<addr-line>Shanghai</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af59"><addr-line>Myopia Key Laboratory of the Ministry of Health of China, Shanghai</addr-line>,<country>China</country></nlm:aff></affiliation></author><author><name sortKey="Kinoshita, Shigeru" sort="Kinoshita, Shigeru" uniqKey="Kinoshita S" first="Shigeru" last="Kinoshita">Shigeru Kinoshita</name><affiliation><nlm:aff id="af6"><addr-line>Department of Ophthalmology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Wiggs, Janey L" sort="Wiggs, Janey L" uniqKey="Wiggs J" first="Janey L." last="Wiggs">Janey L. Wiggs</name><affiliation><nlm:aff id="af57"><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Alabama at Birmingham</institution>,<addr-line>Birmingham, AL</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Khor, Chiea Chuen" sort="Khor, Chiea Chuen" uniqKey="Khor C" first="Chiea-Chuen" last="Khor">Chiea-Chuen Khor</name><affiliation><nlm:aff id="af3"><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Yang, Zhenglin" sort="Yang, Zhenglin" uniqKey="Yang Z" first="Zhenglin" last="Yang">Zhenglin Yang</name><affiliation><nlm:aff id="af26"><addr-line>Sichuan Provincial Key Laboratory for Human Disease Gene Study</addr-line>,<institution>Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital</institution>,<addr-line>Chengdu</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af27"><addr-line>School of Medicine</addr-line>,<institution>University of Electronic Science and Technology of China</institution>,<addr-line>Chengdu</addr-line>,<country>China</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af60"><addr-line>Chinese Academy of Sciences</addr-line>,<institution>Sichuan Translational Medicine Hospital</institution>,<addr-line>Chengdu</addr-line>,<country>China</country></nlm:aff></affiliation></author><author><name sortKey="Pang, Chi Pui" sort="Pang, Chi Pui" uniqKey="Pang C" first="Chi Pui" last="Pang">Chi Pui Pang</name><affiliation><nlm:aff id="af14"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese Uuniversity of Hong Kong Eye Hospital</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Wang, Ningli" sort="Wang, Ningli" uniqKey="Wang N" first="Ningli" last="Wang">Ningli Wang</name><affiliation><nlm:aff id="af8"><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Hauser, Michael A" sort="Hauser, Michael A" uniqKey="Hauser M" first="Michael A." last="Hauser">Michael A. Hauser</name><affiliation><nlm:aff id="af4"><addr-line>Department of Ophthalmology</addr-line>,<institution>Duke University Eye Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af40"><addr-line>Department of Medicine</addr-line>,<institution>Duke University Medical Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Tashiro, Kei" sort="Tashiro, Kei" uniqKey="Tashiro K" first="Kei" last="Tashiro">Kei Tashiro</name><affiliation><nlm:aff id="af5"><addr-line>Department of Genomic Medical Sciences</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Aung, Tin" sort="Aung, Tin" uniqKey="Aung T" first="Tin" last="Aung">Tin Aung</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author><author><name sortKey="Vithana, Eranga N" sort="Vithana, Eranga N" uniqKey="Vithana E" first="Eranga N." last="Vithana">Eranga N. Vithana</name><affiliation><nlm:aff id="af1"><addr-line>Singapore Eye Research Institute</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af13"><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</nlm:aff></affiliation></author></analytic><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at <italic>CDKN2B-AS1</italic> (rs2157719 [G], odds ratio [OR] = 0.71, <italic>P</italic> = 2.81 × 10<sup>−33</sup>), we observed one SNP showing significant association to POAG (<italic>CDC7</italic>–<italic>TGFBR3</italic> rs1192415, OR<sub>G-allele</sub> = 1.13, <italic>P</italic><sub>meta</sub> = 1.60 × 10<sup>−8</sup>). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Hum Mol Genet</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mol. Genet</journal-id><journal-id journal-id-type="publisher-id">hmg</journal-id><journal-id journal-id-type="hwp">hmg</journal-id><journal-title-group><journal-title>Human Molecular Genetics</journal-title></journal-title-group><issn pub-type="ppub">0964-6906</issn><issn pub-type="epub">1460-2083</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25861811</article-id><article-id pub-id-type="pmc">4459396</article-id><article-id pub-id-type="doi">10.1093/hmg/ddv128</article-id><article-id pub-id-type="publisher-id">ddv128</article-id><article-categories><subj-group subj-group-type="heading"><subject>Association Studies Articles</subject></subj-group></article-categories><title-group><article-title>A common variant near <italic>TGFBR3</italic> is associated with primary open angle glaucoma</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Li</surname><given-names>Zheng</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af3">3</xref><xref ref-type="author-notes" rid="AN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Allingham</surname><given-names>R. 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rid="AN3">¶</xref></contrib><contrib contrib-type="author"><name><surname>Tashiro</surname><given-names>Kei</given-names></name><xref ref-type="aff" rid="af5">5</xref><xref ref-type="author-notes" rid="AN3">¶</xref></contrib><contrib contrib-type="author"><name><surname>Aung</surname><given-names>Tin</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="aff" rid="af11">11</xref><xref ref-type="aff" rid="af13">13</xref><xref ref-type="author-notes" rid="AN3">¶</xref></contrib><contrib contrib-type="author"><name><surname>Vithana</surname><given-names>Eranga N.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af11">11</xref><xref ref-type="aff" rid="af13">13</xref><xref ref-type="author-notes" rid="AN3">¶</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><aff id="af1"><label>1</label><addr-line>Singapore Eye Research Institute</addr-line>,</aff><aff id="af2"><label>2</label><addr-line>Singapore National Eye Center</addr-line>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</aff><aff id="af3"><label>3</label><addr-line>Division of Human Genetics</addr-line>,<institution>Genome Institute of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</aff><aff id="af4"><label>4</label><addr-line>Department of Ophthalmology</addr-line>,<institution>Duke University Eye Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</aff><aff id="af5"><label>5</label><addr-line>Department of Genomic Medical Sciences</addr-line>,</aff><aff id="af6"><label>6</label><addr-line>Department of Ophthalmology</addr-line>,</aff><aff id="af7"><label>7</label><addr-line>Department of Medical Statistics</addr-line>,<institution>Kyoto Prefectural University of Medicine</institution>,<addr-line>Kyoto</addr-line>,<country>Japan</country>,</aff><aff id="af8"><label>8</label><addr-line>Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital</addr-line>,<institution>Capital Medical University</institution>,<addr-line>Beijing</addr-line>,<country>China</country>,</aff><aff id="af9"><label>9</label><addr-line>Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical School</addr-line>,</aff><aff id="af10"><label>10</label><addr-line>State Key Laboratory of Medical Neurobiology, Institutes of Brain Science</addr-line>,<institution>Fudan University</institution>,<addr-line>Shanghai</addr-line>,<country>China</country>,</aff><aff id="af11"><label>11</label><addr-line>Department of Ophthalmology, Yong Loo Lin School of Medicine</addr-line>,</aff><aff id="af12"><label>12</label><addr-line>Saw Swee Hock School of Public Health</addr-line>,<institution>National University of Singapore</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</aff><aff id="af13"><label>13</label><institution>Duke-NUS Graduate Medical School</institution>,<addr-line>Singapore</addr-line>,<country>Singapore</country>,</aff><aff id="af14"><label>14</label><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese Uuniversity of Hong Kong Eye Hospital</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</aff><aff id="af15"><label>15</label><addr-line>Department of Ophthalmology, Samsung Medical Center</addr-line>,<institution>Sungkyunkwan University, School of Medicine</institution>,<addr-line>Seoul</addr-line>,<country>Seoul Korea</country>,</aff><aff id="af16"><label>16</label><institution>National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and University College London Institute of Ophthalmology</institution>,<addr-line>London</addr-line>,<country>UK</country>,</aff><aff id="af17"><label>17</label><addr-line>SNONGC Department of Genetics and Molecular Biology</addr-line>,<institution>Vision Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</aff><aff id="af18"><label>18</label><addr-line>Department of Integrative Genomics</addr-line>,<institution>Tohoku Medical Megabank Organization</institution>,<addr-line>Sendai</addr-line>,<country>Japan</country>,</aff><aff id="af19"><label>19</label><addr-line>Department of Ophthalmology</addr-line>,<institution>College of Medicine</institution>,<institution>King Saud University</institution>,<addr-line>Riyadh</addr-line>,<country>Saudi Arabia</country>,</aff><aff id="af20"><label>20</label><addr-line>Department of Ophthalmology</addr-line>,<institution>College of Medicine</institution>,<institution>University of Florida</institution>,<addr-line>Jacksonville, FL</addr-line>,<country>USA</country>,</aff><aff id="af21"><label>21</label><addr-line>Chinese University of Hong Kong Joint Shantou International Eye Center</addr-line>,<institution>Shantou University</institution>,<addr-line>Shantou</addr-line>,<country>China</country>,</aff><aff id="af22"><label>22</label><addr-line>Department of Genetics</addr-line>,<institution>Aravind Medical Research Foundation</institution>,<addr-line>Madurai, Tamilnadu</addr-line>,<country>India</country>,</aff><aff id="af23"><label>23</label><institution>Menzies Institute for Medical Research</institution>,<institution>University of Tasmania</institution>,<addr-line>Hobart</addr-line>,<country>Australia</country>,</aff><aff id="af24"><label>24</label><addr-line>Department of Ophthalmology</addr-line>,<institution>Flinders University</institution>,<addr-line>Adelaide</addr-line>,<country>Australia</country>,</aff><aff id="af25"><label>25</label><addr-line>Department of Genetics and Computational Biology, Statistical Genetics</addr-line>,<institution>QIMR Berghofer Medical Research Institute</institution>,<addr-line>Brisbane, QLD</addr-line>,<country>Australia</country>,</aff><aff id="af26"><label>26</label><addr-line>Sichuan Provincial Key Laboratory for Human Disease Gene Study</addr-line>,<institution>Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital</institution>,<addr-line>Chengdu</addr-line>,<country>China</country>,</aff><aff id="af27"><label>27</label><addr-line>School of Medicine</addr-line>,<institution>University of Electronic Science and Technology of China</institution>,<addr-line>Chengdu</addr-line>,<country>China</country>,</aff><aff id="af28"><label>28</label><institution>Ozaki Eye Hospital</institution>,<addr-line>1–15, Kamezaki, Hyuga, Miyazaki 883-0066</addr-line>,<country>Japan</country>,</aff><aff id="af29"><label>29</label><institution>Mizoguchi Eye Hospital</institution>,<addr-line>6-13 Tawara-machi, Sasebo, Nagasaki 857-0016</addr-line>,<country>Japan</country>,</aff><aff id="af30"><label>30</label><addr-line>Glaucoma Services</addr-line>,<institution>Aravind Eye Hospital</institution>,<addr-line>Madurai, Tamilnadu</addr-line>,<country>India</country>,</aff><aff id="af31"><label>31</label><addr-line>Department of Ophthalmology, School of Medical Sciences</addr-line>,<institution>Universiti Sains Malaysia</institution>,<addr-line>Kota Bharu, Kelantan</addr-line>,<country>Malaysia</country>,</aff><aff id="af32"><label>32</label><institution>Vietnam National Institute of Ophthalmology</institution>,<addr-line>Hanoi</addr-line>,<country>Vietnam</country>,</aff><aff id="af33"><label>33</label><addr-line>Ophthalmology Department</addr-line>,</aff><aff id="af34"><label>34</label><addr-line>Biochemistry Department</addr-line>,<institution>Angers University Hospital</institution>,<addr-line>Angers</addr-line>,<country>France</country>,</aff><aff id="af35"><label>35</label><addr-line>Department of Ophthalmology, Tongji Hospital of Tongji Medical College</addr-line>,<institution>Huazhong University of Science and Technology</institution>,<addr-line>Wuhan</addr-line>,<country>China</country>,</aff><aff id="af36"><label>36</label><addr-line>Huntingdon Glaucoma Diagnostic & Research Centre</addr-line>,<institution>Hinchingbrooke Hospital</institution>,<addr-line>Huntingdon</addr-line>,<country>UK</country>,</aff><aff id="af37"><label>37</label><institution>Norfolk & Norwich University Hospital NHS Trust</institution>,<addr-line>Norwich</addr-line>,<country>UK</country>,</aff><aff id="af38"><label>38</label><institution>Heart of UK NHS Foundation Trust</institution>,<addr-line>Birmingham</addr-line>,<country>UK</country>,</aff><aff id="af39"><label>39</label><addr-line>School of Medicine, Dentistry and Biomedical Sciences, Centre for Experimental Medicine</addr-line>,<institution>Queen's University Belfast</institution>,<addr-line>Northern Ireland</addr-line>,<country>UK</country>,</aff><aff id="af40"><label>40</label><addr-line>Department of Medicine</addr-line>,<institution>Duke University Medical Center</institution>,<addr-line>Durham, NC</addr-line>,<country>USA</country>,</aff><aff id="af41"><label>41</label><addr-line>Department of Cellular Biology and Anatomy</addr-line>,<institution>Georgia Regents University</institution>,<addr-line>Augusta</addr-line>,<country>Georgia</country>,</aff><aff id="af42"><label>42</label><institution>Medical Research Foundation, Sankara Nethralaya</institution>,<addr-line>Chennai</addr-line>,<country>India</country>,</aff><aff id="af43"><label>43</label><addr-line>Department of Ophthalmology</addr-line>,<institution>Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</aff><aff id="af44"><label>44</label><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,</aff><aff id="af45"><label>45</label><addr-line>Department of Epidemiology</addr-line>,<institution>University of Michigan</institution>,<addr-line>Ann Arbor, MI</addr-line>,<country>USA</country>,</aff><aff id="af46"><label>46</label><addr-line>State Key Laboratory of Oncology in Southern China, Guangzhou</addr-line>,<country>China</country>,</aff><aff id="af47"><label>47</label><addr-line>Department of Experimental Research</addr-line>,<institution>Sun Yat-Sen University Cancer Centre</institution>,<addr-line>Guangzhou</addr-line>,<country>China</country>,</aff><aff id="af48"><label>48</label><addr-line>Clinical Research Unit</addr-line>,<institution>Oxford University</institution>,<addr-line>190 Ben Ham Tu, Ho Chi Minh City</addr-line>,<country>Vietnam</country>,</aff><aff id="af49"><label>49</label><addr-line>Centre for Tropical Medicine, Nuffield Department of Clinical Medicine</addr-line>,<institution>Oxford University</institution>,<addr-line>Oxford OX3 7LJ</addr-line>,<country>UK</country>,</aff><aff id="af50"><label>50</label><addr-line>Department of Epidemiology and Biostatistics</addr-line>,<institution>Case Western Reserve University</institution>,<addr-line>Cleveland, OH</addr-line>,<country>USA</country>,</aff><aff id="af51"><label>51</label><addr-line>Channing Division of Network Medicine</addr-line>,<institution>Brigham and Women's Hospital</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</aff><aff id="af52"><label>52</label><addr-line>Department of Medicine</addr-line>,<institution>National University Health System & National University of Singapore</institution>,<country>Singapore</country>,</aff><aff id="af53"><label>53</label><addr-line>Einhorn Clinical Research Center, Department of Ophthalmology</addr-line>,<institution>New York Eye and Ear Infirmary</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</aff><aff id="af54"><label>54</label><institution>Eye Doctors of Washington DC</institution>,<addr-line>Washington, DC</addr-line>,<country>USA</country>,</aff><aff id="af55"><label>55</label><addr-line>Department of Ophthalmology, Harvard Medical School</addr-line>,<institution>Massachusetts Eye and Ear Infirmary</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country>,</aff><aff id="af56"><label>56</label><institution>Centre for Eye Research Australia (CERA)</institution>,<institution>University of Melbourne</institution>,<institution>Royal Victorian Eye and Ear Hospital</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country>,</aff><aff id="af57"><label>57</label><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Alabama at Birmingham</institution>,<addr-line>Birmingham, AL</addr-line>,<country>USA</country>,</aff><aff id="af58"><label>58</label><addr-line>Centre for Ophthalmology and Visual Science</addr-line>,<institution>Lions Eye Institute, University of Western Australia</institution>,<addr-line>Perth, WA</addr-line>,<country>Australia</country>,</aff><aff id="af59"><label>59</label><addr-line>Myopia Key Laboratory of the Ministry of Health of China, Shanghai</addr-line>,<country>China</country> and</aff><aff id="af60"><label>60</label><addr-line>Chinese Academy of Sciences</addr-line>,<institution>Sichuan Translational Medicine Hospital</institution>,<addr-line>Chengdu</addr-line>,<country>China</country></aff></contrib-group><author-notes><corresp id="cor1"><label>*</label>To whom correspondence should be addressed at: The Academia, 20 College Road, Discovery Tower level 6, Singapore 169856, Singapore. Tel: +65 65767216; Fax: +65 62252568. Email: <email>eranga.n.v@sericom.sg</email> (E. N. V.); 60 Biopolis Street, #02-01 Genome Building, Genome Institute of Singapore, Singapore 138672, Singapore. Tel: +<phone>65 68088200</phone>; Fax: +65 68088034. Email: <email>khorcc@gis.a-star.edu.sg</email> (C.-C. K.)</corresp><fn id="AN1" fn-type="con"><label>†</label><p>These authors contributed equally to this work.</p></fn><fn id="AN2" fn-type="con"><label>‡</label><p>A list of members of each consortium appears in the <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Note</ext-link>.</p></fn><fn id="AN3" fn-type="con"><label>¶</label><p>These authors also contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><day>01</day><month>7</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>10</day><month>4</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>10</day><month>4</month><year>2015</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>24</volume><issue>13</issue><fpage>3880</fpage><lpage>3892</lpage><history><date date-type="received"><day>1</day><month>12</month><year>2014</year></date><date date-type="rev-recd"><day>9</day><month>3</month><year>2015</year></date><date date-type="accepted"><day>8</day><month>4</month><year>2015</year></date></history><permissions><copyright-statement>© The Author 2015. Published by Oxford University Press</copyright-statement><copyright-year>2015</copyright-year><license license-type="creative-commons" xlink:href="http://creativecommons.org/licenses/by-nc/4.0/"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/4.0/">http://creativecommons.org/licenses/by-nc/4.0/</ext-link>), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com</license-p></license></permissions><self-uri content-type="pdf" xlink:type="simple" xlink:href="ddv128.pdf"></self-uri><abstract><p>Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at <italic>CDKN2B-AS1</italic> (rs2157719 [G], odds ratio [OR] = 0.71, <italic>P</italic> = 2.81 × 10<sup>−33</sup>), we observed one SNP showing significant association to POAG (<italic>CDC7</italic>–<italic>TGFBR3</italic> rs1192415, OR<sub>G-allele</sub> = 1.13, <italic>P</italic><sub>meta</sub> = 1.60 × 10<sup>−8</sup>). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.</p></abstract></article-meta></front><body><sec sec-type="intro" id="s1"><title>Introduction</title><p>Glaucoma is the leading cause of irreversible visual impairment and blindness, affecting >60 million people worldwide, and it is estimated that the number of affected individuals will reach 80 million in 2020 (<xref rid="DDV128C1" ref-type="bibr">1</xref>–<xref rid="DDV128C3" ref-type="bibr">3</xref>). Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma in most populations and is characterized by progressive retinal ganglion cell (RGC) loss that causes characteristic structural changes of the optic nerve with associated with visual field loss in the face of an open drainage angle in the eye. POAG has a strong genetic component that has been well documented (<xref rid="DDV128C4" ref-type="bibr">4</xref>). Indeed, several susceptibility loci have been identified for POAG through the use of linkage and association studies (<xref rid="DDV128C5" ref-type="bibr">5</xref>). Genes known to contribute to glaucoma include myocillin (<italic>MYOC</italic>), optineurin (<italic>OPTN</italic>), TANK-binding kinase 1 (<italic>TBK1</italic>) and WD repeat domain 36 (<italic>WDR36</italic>) (<xref rid="DDV128C6" ref-type="bibr">6</xref>–<xref rid="DDV128C12" ref-type="bibr">12</xref>). However, mutations in these genes account for no >5–10% of all POAG cases in the general population (<xref rid="DDV128C5" ref-type="bibr">5</xref>).</p><p>It is likely that POAG, as a complex trait, results from the interactions of multiple genes and environmental factors (<xref rid="DDV128C13" ref-type="bibr">13</xref>–<xref rid="DDV128C15" ref-type="bibr">15</xref>). Genome-wide association studies (GWAS) have provided further insights into the genetic basis of POAG (<xref rid="DDV128C16" ref-type="bibr">16</xref>). The first GWAS on POAG was conducted on 1263 POAG cases and 34 877 controls from Iceland. Genome-wide significant association was detected at the CAV1–CAV2 locus on Chromosome 7q31 and subsequently was replicated in a multi-ethnic sample collection from Sweden, the UK, Australia, Hong Kong and China (<xref rid="DDV128C17" ref-type="bibr">17</xref>). This was rapidly followed by five other GWAS studies, which utilized either advanced or non-advanced POAG cases derived from populations of European or East Asian ancestries (<xref rid="DDV128C18" ref-type="bibr">18</xref>–<xref rid="DDV128C22" ref-type="bibr">22</xref>). These latter studies led to the discovery of nine additional genetic regions associated with POAG disease risk (<italic>TMCO1</italic>, <italic>CDKN2B-AS1</italic>, <italic>SIX1-SIX6</italic>, an intergenic region on chromosome <italic>8q22</italic>, <italic>ABCA1</italic>, <italic>GAS7</italic>, <italic>AFAP1</italic>, <italic>GMDS</italic> and <italic>PMM2</italic>). Several of these genetic loci have been replicated in ethnically diverse populations, demonstrating them to be bona fide POAG associations with global implications (<xref rid="DDV128C23" ref-type="bibr">23</xref>–<xref rid="DDV128C25" ref-type="bibr">25</xref>).</p><p>Similar in concept and laboratory chemistry to the whole-genome genotyping chip design, the exome array approach evaluates putative functional coding variants selected from the exome sequences of >12 000 individuals (<xref rid="DDV128C26" ref-type="bibr">26</xref>). In addition, the exome array also contains >5000 common variant SNPs from GWAS arrays with a minor allele frequency (MAF) exceeding 5% which can serve as ancestry informative markers. Exome array genotyping allows us to specifically explore the possible contribution of potentially functional coding variants in POAG disease susceptibility.</p></sec><sec sec-type="results" id="s2"><title>Results</title><sec id="s2a"><title>Common genetic variants in <italic>CDKN2B-AS1</italic> and <italic>TGFBR3-CDC7</italic> are associated with POAG</title><p>We conducted a two-stage Exome Chip discovery and replication on POAG cases and normal controls. For the discovery stage (Stage 1), genotyping was performed using the Illumina Infinium HumanExomeBeadChip (v1.0) on a total of 3822 POAG cases and 10 426 normal controls drawn from seven countries (Table <xref ref-type="table" rid="DDV128TB1">1</xref>). In addition to the ≈247 000 SNP markers present on the standard Illumina Exome array (<xref rid="DDV128C26" ref-type="bibr">26</xref>), we also included an extra 25 000 coding frame SNP markers obtained from exome sequencing of 2000 individuals of East Asian descent. Stringent quality control (QC) filters were applied to both SNPs and samples: per SNP call rate ≥99%, per-sample call rate ≥95%, non-monomorphic SNPs and non-significant deviation from Hardy–Weinberg equilibrium (HWE) <italic>P</italic> ≥ 10<sup>−6</sup>. Samples under suspicion of cross-contamination and biologically related samples were removed by verification of extreme heterozygosity and identical by descent/identical by state information, if applicable. We further performed principal component analysis (PCA) to verify that cases and controls were well-matched ancestrally (<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Fig. S1</ext-link>) (<xref rid="DDV128C27" ref-type="bibr">27</xref>–<xref rid="DDV128C32" ref-type="bibr">32</xref>). As a result, a total of 3504 POAG cases and 9746 controls passing QC filters were included for association analysis using unconditional logistic regression, with adjustments for the principal components (PCs). From these datasets, a total of 2206 POAG cases represent entirely new patient collections, which have not been previously reported (<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Table S1</ext-link>). Each study-specific point estimate was then summarized using fixed-effects meta-analysis (<italic>N</italic><sub>meta-analysis</sub> = 7 collections). A quantile–quantile plot derived from the meta-analysis <italic>P</italic>-values showed no significant dispersion of test statistics from the expected distribution (<italic>λ</italic><sub>GC</sub> = 1.042; <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Fig. S2</ext-link>) suggesting that the association results were not confounded by cryptic population stratification. Using additive effect models, we observed experiment-wide significant (<italic>P</italic> = 0.05/272 000 SNPs = 1.84 × 10<sup>−7</sup>) evidence of association at <italic>CDKN2B-AS1</italic> (rs2157719 [G], per-allele OR = 0.73, <italic>P</italic> = 1.10 × 10<sup>−7</sup>) (<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Fig. S3</ext-link>).
<table-wrap id="DDV128TB1" position="float"><label>Table 1.</label><caption><p>Sample collections of POAG cases and controls for Stages 1 (discovery) and 2 (replication)</p></caption><table frame="hsides" rules="groups"><colgroup span="1"><col align="left" span="1"></col><col align="char" char="." span="1"></col><col align="char" char="." span="1"></col><col align="left" span="1"></col><col align="char" char="±" span="1"></col><col align="char" char="±" span="1"></col><col align="left" span="1"></col></colgroup><thead><tr><th align="left" rowspan="1" colspan="1">Collection</th><th align="left" rowspan="1" colspan="1"><italic>N</italic> cases</th><th align="left" rowspan="1" colspan="1"><italic>N</italic> controls</th><th align="left" rowspan="1" colspan="1">Ethnicity</th><th align="left" rowspan="1" colspan="1">Age of cases</th><th align="left" rowspan="1" colspan="1">Age of controls<sup>a</sup></th><th align="left" rowspan="1" colspan="1">Collection comment</th></tr></thead><tbody><tr><td rowspan="1" colspan="1">Singapore</td><td rowspan="1" colspan="1">850</td><td rowspan="1" colspan="1">2347</td><td rowspan="1" colspan="1">Singaporean Chinese</td><td rowspan="1" colspan="1">71.6 ± 10.1</td><td rowspan="1" colspan="1">58.88 ± 9.6</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">Japan</td><td rowspan="1" colspan="1">923</td><td rowspan="1" colspan="1">640</td><td rowspan="1" colspan="1">Japanese</td><td rowspan="1" colspan="1">65.3 ± 13.1</td><td rowspan="1" colspan="1">71.9 ± 5.8</td><td rowspan="1" colspan="1">Previously GWAS in Nakano <italic>et al</italic>. (<xref rid="DDV128C25" ref-type="bibr">25</xref>)</td></tr><tr><td rowspan="1" colspan="1">USA-African-Americans</td><td rowspan="1" colspan="1">590</td><td rowspan="1" colspan="1">636</td><td rowspan="1" colspan="1">African American</td><td rowspan="1" colspan="1">65.4 ± 12.3</td><td rowspan="1" colspan="1">54.8 ± 9.8</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">China-Beijing</td><td rowspan="1" colspan="1">587</td><td rowspan="1" colspan="1">461</td><td rowspan="1" colspan="1">Northern Chinese</td><td rowspan="1" colspan="1">58.5 ± 12.5</td><td rowspan="1" colspan="1">Population-based controls</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">Hong Kong</td><td rowspan="1" colspan="1">375</td><td rowspan="1" colspan="1">2962</td><td rowspan="1" colspan="1">Southern Chinese</td><td rowspan="1" colspan="1">62.3 ± 15.3</td><td rowspan="1" colspan="1">Population-based controls</td><td rowspan="1" colspan="1">Previously described for replication in Thorleifsson <italic>et al</italic>. (<xref rid="DDV128C17" ref-type="bibr">17</xref>)</td></tr><tr><td rowspan="1" colspan="1">South India</td><td rowspan="1" colspan="1">121</td><td rowspan="1" colspan="1">716</td><td rowspan="1" colspan="1">Indian</td><td rowspan="1" colspan="1">60.9 ± 12.0</td><td rowspan="1" colspan="1">51.0 ± 6.5</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">Vietnam</td><td rowspan="1" colspan="1">58</td><td rowspan="1" colspan="1">1984</td><td rowspan="1" colspan="1">Vietnamese</td><td rowspan="1" colspan="1">63 ± 7.1</td><td rowspan="1" colspan="1">Population-based controls</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">Total discovery</td><td rowspan="1" colspan="1">3504</td><td rowspan="1" colspan="1">9746</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">2206 cases are new discovery samples</td></tr><tr><td colspan="7" rowspan="1">Stage 2 replication</td></tr><tr><td rowspan="1" colspan="1">Singapore-2</td><td rowspan="1" colspan="1">520</td><td rowspan="1" colspan="1">5473</td><td rowspan="1" colspan="1">Singaporean Chinese</td><td rowspan="1" colspan="1">71.1 ± 10</td><td rowspan="1" colspan="1">Population-based controls</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">Japan-2</td><td rowspan="1" colspan="1">935</td><td rowspan="1" colspan="1">996</td><td rowspan="1" colspan="1">Japanese</td><td rowspan="1" colspan="1">64.3 ± 14.0</td><td rowspan="1" colspan="1">57.5 ± 13.9</td><td rowspan="1" colspan="1"><italic>N</italic> = 411 used for replication in Nakano <italic>et al</italic>. (<xref rid="DDV128C25" ref-type="bibr">25</xref>)</td></tr><tr><td rowspan="1" colspan="1">USA-Afican-American 2</td><td rowspan="1" colspan="1">497</td><td rowspan="1" colspan="1">304</td><td rowspan="1" colspan="1">African-American</td><td rowspan="1" colspan="1">69.1 ± 11.0</td><td rowspan="1" colspan="1">66.7 ± 13.1</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">South India-2</td><td rowspan="1" colspan="1">453</td><td rowspan="1" colspan="1">2496</td><td rowspan="1" colspan="1">Indian</td><td rowspan="1" colspan="1">62.5 ± 9.9</td><td rowspan="1" colspan="1">58.9 ± 10.1</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">Korea</td><td rowspan="1" colspan="1">400</td><td rowspan="1" colspan="1">454</td><td rowspan="1" colspan="1">Korean</td><td rowspan="1" colspan="1">59.0 ± 11.8</td><td rowspan="1" colspan="1">40.3 ± 14.1</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">Saudi Arabia</td><td rowspan="1" colspan="1">236</td><td rowspan="1" colspan="1">655</td><td rowspan="1" colspan="1">Middle Eastern</td><td rowspan="1" colspan="1">60.8 ± 12.7</td><td rowspan="1" colspan="1">54.4 ± 11.7</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">Malaysia</td><td rowspan="1" colspan="1">132</td><td rowspan="1" colspan="1">2540</td><td rowspan="1" colspan="1">Malay</td><td rowspan="1" colspan="1">65.1 ± 8.2</td><td rowspan="1" colspan="1">58.7 ± 11.0</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">China-Beijing 2</td><td rowspan="1" colspan="1">115</td><td rowspan="1" colspan="1">251</td><td rowspan="1" colspan="1">Northern Chinese</td><td rowspan="1" colspan="1">54.2 ± 12.4</td><td rowspan="1" colspan="1">71.53 ± 7.16</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">UK</td><td rowspan="1" colspan="1">336</td><td rowspan="1" colspan="1">6090</td><td rowspan="1" colspan="1">European</td><td rowspan="1" colspan="1">71.4 ± 10.8</td><td rowspan="1" colspan="1">Population-based controls</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">China-Shantou</td><td rowspan="1" colspan="1">247</td><td rowspan="1" colspan="1">289</td><td rowspan="1" colspan="1">Southern Chinese</td><td rowspan="1" colspan="1">52.9 ± 19.4</td><td rowspan="1" colspan="1">75.7 ± 6.1</td><td rowspan="1" colspan="1">Previously described for replication in Thorleifsson <italic>et al</italic>. (<xref rid="DDV128C17" ref-type="bibr">17</xref>)</td></tr><tr><td rowspan="1" colspan="1">Germany</td><td rowspan="1" colspan="1">56</td><td rowspan="1" colspan="1">142</td><td rowspan="1" colspan="1">European</td><td rowspan="1" colspan="1">67.9 ± 11.4</td><td rowspan="1" colspan="1">78.4 ± 8.9</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">Vietnam-2</td><td rowspan="1" colspan="1">76</td><td rowspan="1" colspan="1">245</td><td rowspan="1" colspan="1">Vietnamese</td><td rowspan="1" colspan="1">52.4 ± 17.4</td><td rowspan="1" colspan="1">51.3 ± 17.8</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">France</td><td rowspan="1" colspan="1">80</td><td rowspan="1" colspan="1">75</td><td rowspan="1" colspan="1">European</td><td rowspan="1" colspan="1">75.6 ± 8.5</td><td rowspan="1" colspan="1">73.5 ± 8.3</td><td rowspan="1" colspan="1">New recruitment</td></tr><tr><td rowspan="1" colspan="1">China-Shanghai, Chengdu 2</td><td rowspan="1" colspan="1">181</td><td rowspan="1" colspan="1">286</td><td rowspan="1" colspan="1">Southern Chinese</td><td rowspan="1" colspan="1">54.7 ± 16.5</td><td rowspan="1" colspan="1">84.7 ± 11.7</td><td rowspan="1" colspan="1">Previously described in Chen <italic>et al</italic>. (<xref rid="DDV128C19" ref-type="bibr">19</xref>)</td></tr><tr><td rowspan="1" colspan="1">China-Shanghai, Chengdu</td><td rowspan="1" colspan="1">608</td><td rowspan="1" colspan="1">1005</td><td rowspan="1" colspan="1">Southern Chinese</td><td rowspan="1" colspan="1">49.6 ± 17.0</td><td rowspan="1" colspan="1">62.9 ± 12.1</td><td rowspan="1" colspan="1">Previously described in Chen <italic>et al</italic>. (<xref rid="DDV128C19" ref-type="bibr">19</xref>)</td></tr><tr><td rowspan="1" colspan="1">USA (NEIGHBOR)</td><td rowspan="1" colspan="1">2170</td><td rowspan="1" colspan="1">2347</td><td rowspan="1" colspan="1">European descendant</td><td rowspan="1" colspan="1">66.4</td><td rowspan="1" colspan="1">68</td><td rowspan="1" colspan="1">Previously described in Wiggs <italic>et al</italic>. (<xref rid="DDV128C22" ref-type="bibr">22</xref>)</td></tr><tr><td rowspan="1" colspan="1">USA (GLAUGEN)</td><td rowspan="1" colspan="1">976</td><td rowspan="1" colspan="1">1140</td><td rowspan="1" colspan="1">European descendant</td><td rowspan="1" colspan="1">63.6</td><td rowspan="1" colspan="1">65.5</td><td rowspan="1" colspan="1">Previously described in Wiggs <italic>et al</italic>. (<xref rid="DDV128C22" ref-type="bibr">22</xref>)</td></tr><tr><td rowspan="1" colspan="1">Australia (ANZRAG)</td><td rowspan="1" colspan="1">1155</td><td rowspan="1" colspan="1">1992</td><td rowspan="1" colspan="1">European descendant</td><td rowspan="1" colspan="1">60.5 ± 14.3</td><td rowspan="1" colspan="1">55.6 ± 14.4</td><td rowspan="1" colspan="1">Previously described in Gharahkhani <italic>et al</italic>. (<xref rid="DDV128C20" ref-type="bibr">20</xref>)</td></tr><tr><td rowspan="1" colspan="1">Total replication</td><td rowspan="1" colspan="1">9173</td><td rowspan="1" colspan="1">26 780</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">3425 cases are new replication samples</td></tr><tr><td rowspan="1" colspan="1">Total all samples</td><td rowspan="1" colspan="1">12 677</td><td rowspan="1" colspan="1">36 526</td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1"></td><td rowspan="1" colspan="1">5631 cases are new in this report.</td></tr></tbody></table><table-wrap-foot><fn id="TN1"><p><sup>a</sup>Population-based controls are ascertained from large-scale studies and do not have demographic data available. Based on many well-described examples, both by others and us, the frequency of POAG in the general population is uncommon (i.e. <5%). In this regard, the false-negative rate for POAG status in the population-based controls is likely to be low and thus the effect of loss of statistical power is negligible.</p></fn></table-wrap-foot></table-wrap></p><p>All SNP markers showing <italic>P</italic> < 0.0005 in the discovery stage were followed up in a validation stage (Stage 2) comprised of up to 9173 POAG cases and 26 780 controls. A total of 21 SNPs at 20 independent loci were brought forward for validation genotyping using Sequenom MassARRAY iPLEX or <italic>in silico</italic> look-ups if genome-wide genotyping data were available (see <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Table S2</ext-link>).</p><p><italic>CDKN2B-AS1</italic> rs2157719 once again showed significant evidence of association in the meta-analysis of all replication collections (OR = 0.70, <italic>P</italic> = 2.48 × 10<sup>−27</sup>) as well as meta-analysis of all samples tested (rs2157719 [G], OR = 0.71, <italic>P</italic><sub>meta</sub> = 2.81 × 10<sup>−33</sup>) (<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Table S2</ext-link> and <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Fig. S4</ext-link>). No heterogeneity of effect between Asians (OR = 0.72, <italic>P</italic> = 1.15 × 10<sup>−15</sup>) and Europeans (OR = 0.69, <italic>P</italic> = 5.54 × 10<sup>−19</sup>) were detected for this marker (Fig. <xref ref-type="fig" rid="DDV128F1">1</xref>A), consistent with the multiple previous reports describing association at this locus (<xref rid="DDV128C18" ref-type="bibr">18</xref>,<xref rid="DDV128C22" ref-type="bibr">22</xref>,<xref rid="DDV128C25" ref-type="bibr">25</xref>). Apart from <italic>CDKN2B-AS1</italic> rs2157719, a second SNP marker (<italic>CDC7</italic>-<italic>TGFBR3</italic> rs1192415) showed clear evidence of replication in Stage 2 (OR = 1.12, <italic>P</italic> = 1.04 × 10<sup>−5</sup>, Fig. <xref ref-type="fig" rid="DDV128F1">1</xref>B and <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Table S2</ext-link>). On meta-analysis with the exome-chip discovery findings, genome-wide significant evidence of association was observed for rs1192415 (OR = 1.13, <italic>P</italic><sub>meta</sub> = 1.6 × 10<sup>−8</sup>) (Fig. <xref ref-type="fig" rid="DDV128F1">1</xref>B; <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Table S2</ext-link>). Although the risk allele ranged from between 11 and 34% across all ethnic groups studied for this marker, the association observed appeared to be uniform and consistent across most groups with little overall heterogeneity (<italic>I</italic><sup>2</sup> index< 20%, <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Table S3</ext-link>). For rs1192514, the association appeared stronger in Asians (OR = 1.17, <italic>P</italic> = 1.48 × 10<sup>−7</sup>) compared with Europeans (OR = 1.10, <italic>P</italic> = 0.01) (Fig. <xref ref-type="fig" rid="DDV128F1">1</xref>B), although the difference was not statistically significant (<italic>P</italic><sub>het</sub> = 0.17). One other marker (<italic>FNDC3B</italic> rs4894796) was nominally significant in the replication stage (OR = 0.95, <italic>P</italic> = 0.02) and remained suggestively associated with POAG in the overall meta-analysis (OR = 0.93, <italic>P</italic> = 1.40 × 10<sup>−5</sup>) (Fig. <xref ref-type="fig" rid="DDV128F1">1</xref>C; <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Table S2</ext-link>). However, the association appeared to be nearly entirely driven by the Asian POAG collections (OR = 0.89) compared with the Europeans (OR = 0.99, <italic>P</italic><sub>het</sub> between Asians and Europeans = 0.0042) (Fig. <xref ref-type="fig" rid="DDV128F1">1</xref>C). A recently reported GWAS on POAG showed strong association with common SNP markers mapping to <italic>AFAP1</italic> (rs4478172) (<xref rid="DDV128C20" ref-type="bibr">20</xref>). Looking up on our exome dataset, we successfully genotyped rs7437940 (<italic>r</italic><sup>2</sup> = 0.18, <italic>D</italic>′ = 0.97 with rs4478172) which also mapped within <italic>AFAP1</italic>. We note significant association at this <italic>AFAP1</italic> marker (rs7437940: Stage 1 <italic>P</italic> = 1.94 × 10<sup>−5</sup>, Stage 2 <italic>P</italic> = 0.08, <italic>P</italic>-value for meta-analysis = 4.25 × 10<sup>−6</sup>) (<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Table S2</ext-link>), which supports the previous report (<xref rid="DDV128C20" ref-type="bibr">20</xref>).
<fig id="DDV128F1" position="float"><label>Figure 1.</label><caption><p>Forest plots showing evidence of association between SNPs: (<bold>A</bold>) <italic>CDKN2B-AS1</italic> rs2157719, (<bold>B</bold>) <italic>CDC7</italic>/<italic>TGFBR3</italic> rs1192415 and (<bold>C</bold>) <italic>FNDC3B</italic> rs4894796. The vertical line represents a per-allele odds ratio of 1.00. The oblongs represent point estimates (referring to the per-allele odds ratio), with the height of the oblongs inversely proportional to the standard error of the point estimates. Horizontal lines indicate the 95% confidence interval for each point estimate. Meta-analysis of Stages 1 and 2, OR, <italic>P</italic><sub>meta</sub> and <italic>I</italic><sup>2</sup> was labeled on the right-hand side for corresponding analysis. For rs4894796 genotyping, see <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Information</ext-link> for sample collections.</p></caption><graphic xlink:href="ddv12801a"></graphic></fig><fig id="DDV12801B" position="float"><label>Figure 1</label><caption><p>Continued</p></caption><graphic xlink:href="ddv12801b"></graphic></fig></p></sec><sec id="s2b"><title>Expression of POAG-associated genes in ocular tissues</title><p>We examined the mRNA expression of <italic>CDC7</italic>, <italic>TGFBR3</italic> and <italic>FNDC3B</italic> in multiple eye tissues. Expression of all three genes was observed in tissues relevant to POAG such as the trabecular meshwork, optic disc and nerve. In contrast to <italic>TGFBR3</italic> and <italic>FNDC3B</italic>, which were expressed in all tested ocular tissues, <italic>CDC7</italic> expression was absent in the iris, ciliary body and choroid (Fig. <xref ref-type="fig" rid="DDV128F2">2</xref>).
<fig id="DDV128F2" position="float"><label>Figure 2.</label><caption><p>Analysis of <italic>FNDC3B</italic>, <italic>TGFBR3</italic> and <italic>CDC7</italic> expression in ocular tissues. (<bold>A</bold>) The <italic>FNDC3B-</italic>specific 162 bp and <italic>TGFBR3-</italic>specific 152 bp amplification product was observed in all analyzed ocular tissues. <italic>CDC7-</italic>specific 242 bp product was observed in sclera, cornea, trabecular meshwork, retina, optic disc and optic nerve. The ubiquitously expressed gene, <italic>ACTB</italic> was used as the normalizing control. A no template sample acted as the negative control (NC) to ensure non-contamination of the RT–PCR reaction mix. The variable <italic>M</italic> denotes molecular-weight marker. (<bold>B</bold>) Immunoblot of whole cell lysates from NPCE, retinal pigment epithelial (ARPE19) and HTM cells, probed for FNDC3B and β-actin, as a loading control. Positions of the ∼133 and ∼44 kDa forms of FNDC3B are indicated. All ocular cells analyzed expressed the ∼133 kDa protein, while ARPE19 cells expressed a smaller ∼44 kDa isoform of FNDC3B. (<bold>C</bold>) Immunolocalization of FNDC3B in human eye tissues. Strong immunofluorescence labeling of FNDC3B (green) was seen in the ciliary muscle (CM) (top row). Scale bar: 100 µm. In the trabecular meshwork (TM, middle row), FNDC3B (green) labeling was relatively weaker. Scale bar: 40 µm. FNDC3B positive immunoreactivity was also observed in cornea epithelial (*) and cornea endothelial cells (white arrows) (bottom row). Nuclei were stained with DAPI (blue). Scale bar: 100 µm.</p></caption><graphic xlink:href="ddv12802"></graphic></fig></p><p>We also investigated the localization of FNDC3B protein in normal ocular tissues, focusing our attention on cornea and the tissues of the outflow pathway. FNDC3B could be immunolocalized to cells in the trabecular meshwork and all three layers of the cornea (Fig. <xref ref-type="fig" rid="DDV128F2">2</xref>). Immunolocalization of TGFBR3 and CDC7 could not be similarly investigated due to lack of availability of specific antibodies.</p></sec><sec id="s2c"><title>Analysis of rare variants from the exome-chip discovery collection</title><p>We next proceeded to conduct gene-based tests on mutational load to further investigate the role of low-frequency variants in POAG for all patient collections in the discovery stage. Gene-based tests are an alternative to single-marker tests for association, which are often underpowered to detect association with rare variants. To more directly address the impact of low frequency, non-synonymous genetic variants, we considered only the variants with MAF of <5% (<xref rid="DDV128C33" ref-type="bibr">33</xref>). As a result, we were able to assess a total of 7822 genes having at least two such variants using the sequence kernel association optimal test (<xref rid="DDV128C34" ref-type="bibr">34</xref>). We note two genes (<italic>MYO18A</italic> and <italic>SULF2</italic>) which showed nominal evidence of association on burden test (<italic>P</italic> = 6.26 × 10<sup>−7</sup> and <italic>P</italic> = 5.78 × 10<sup>−5</sup>, respectively), but these findings are primarily driven by the small Vietnamese collection (<italic>N</italic> = 58 cases and <italic>N</italic> = 1984 controls). Removal of this dataset resulted in a marked reduction of the burden test association results (<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Table S4</ext-link>).</p></sec></sec><sec sec-type="discussion" id="s3"><title>Discussion</title><p>The present study supports the association of POAG a locus that has been previously implicated with vertical cup-disc ratio, a glaucoma-associated endophenotype. This locus is defined by rs1192415, a common SNP marker mapping to the intergenic region between <italic>CDC7</italic> and <italic>TGFBR3</italic> (allele [G], OR = 1.13, <italic>P</italic><sub>meta</sub> = 1.6 × 10<sup>−8</sup>). We were also able to strongly corroborate the established association of POAG with <italic>CDKN2B-AS1</italic>.<italic>CDC7</italic>-<italic>TGFBR3</italic> rs1192415 has previously been reported to be strongly associated with overall optic disc area, which together with VCDR is a glaucoma-related quantitative trait (<xref rid="DDV128C35" ref-type="bibr">35</xref>,<xref rid="DDV128C36" ref-type="bibr">36</xref>). Examination of this locus in >4700 POAG cases and >90 000 controls of European descent in a recent study showed direction of effect consistent with our data (OR = 1.06, <italic>P</italic> = 0.12) (<xref rid="DDV128C37" ref-type="bibr">37</xref>). Indeed, in the European section of our study (<italic>N</italic> = 4773 cases and 11786 controls), we note a similar effect size (OR = 1.10, <italic>P</italic> = 0.01) in keeping with that shown by Springelkamp and others. The effect of this locus appeared to be much stronger in Asians (OR = 1.17, <italic>P</italic> = 1.48 × 10<sup>−7</sup>), leading to a genome-wide significant association upon meta-analysis of all collections. Each copy of the rs1192415 minor allele is associated with a relatively modest increase in POAG risk of 1.13 at exome-wide significance. The consistency of the effect across 21 of 24 POAG collections (<italic>P</italic><sub>het</sub> = 0.22, <italic>I</italic><sup>2</sup> index for heterogeneity = 16.9%), lend further credence to the observed association.</p><p>It is of note that the G allele of the rs1192415 is associated with increase in disc area and therefore a larger VCDR. This may indicate a lower threshold for diagnosing glaucoma in those individuals harboring the risk allele (<xref rid="DDV128C38" ref-type="bibr">38</xref>). However, as the diagnosis of POAG in this study was not based solely upon the presence of an increased cup–disc ratio but also compatible visual field loss, it is unlikely that selection bias has influenced the result obtained with rs1192415. We note that <italic>FNDC3B</italic> was one of 16 loci associated with central corneal thickness (sentinel SNP being rs4894535) in a meta-analysis conducted on >20 000 individuals of European and Asian descent (<xref rid="DDV128C39" ref-type="bibr">39</xref>). That study also showed marker rs4894535 to be associated with POAG in 2979 cases and 7399 controls of European descent (OR = 0.83, <italic>P</italic> = 5.6 × 10<sup>−4</sup>). We were able to confirm association of rs4894535 with POAG in 5810 cases and 13 175 controls with readily available DNA for genotyping across 13 collections in this study (OR = 0.91, <italic>P</italic> = 0.0018; <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Table S5</ext-link>), thus lending further support for this association.</p><p>It is noteworthy that the <italic>FNDC3B</italic> SNP we report here (rs4894796) was nominally associated with POAG in the overall meta-analyses (OR = 0.93, <italic>P</italic> = 1.4 × 10<sup>−5</sup>). In particular, the association at rs4894796 was observed to be particularly strong in Asians (OR = 0.89, <italic>P</italic> = 7.93 × 10<sup>−8</sup>) compared with Europeans (OR = 0.99, <italic>P</italic> = 0.71). Unsurprisingly, rs4894796 was found within a different linkage disequilibrium (LD) block than the SNP associated with central corneal thickness and POAG (rs4894535). The low LD between rs4894796 and rs4894535 suggests that the association signal at the latter SNP is not likely to be driven by rs4894796. An in-depth inspection of the LD patterns of this genetic region between European and East Asian populations, which currently appear visually identical according to available heat maps (<uri xlink:type="simple" xlink:href="http://www.hapmap.org">http://www.hapmap.org</uri>), may be useful to better understand the degree of LD dissimilarity between populations and its bearing on the results obtained for <italic>FNDC3B</italic>. Of note, a further SNP (rs6445055) at <italic>FNDC3B</italic> showed genome-wide significant association for intraocular pressure (IOP) (<italic>P</italic> = 4.9 × 10<sup>−8</sup>), but only marginal association was seen for POAG per se (<italic>P</italic> = 0.03, OR = 0.92) in 4284 POAG cases and 95 560 controls of European descent (<xref rid="DDV128C21" ref-type="bibr">21</xref>). As the <italic>FNDC3B</italic> SNP associations with POAG are still suggestive rather than affirmative it is presumptive at this stage to speculate that it could be one of the links for IOP-dependent mechanisms of POAG.</p><p>This is one of the largest studies on the genetics of POAG, yet the power to detect genes with small effects was limited. One crucial reason for this apparent loss of power could be the scope of the genetic content which was used for interrogation (as exomic content only comprises <2% of the entire human genome, much useful data could be missed if the bulk of the true positive genetic associations for POAG lie in the non-coding regions of the genome). The fact that our discovery cohort was not mono-ethnic may also have reduced the power to detect ethnic specific variants of small effect sizes due to significant differences in allele frequencies between ethnic groups. The phenotypic heterogeneity and the lack of standardized clinical criteria across the cohorts may also have contributed to a loss in power. The level of IOP is commonly used to subdivide POAG into two subtypes: POAG with high IOP (>21 mmHg; named high-tension glaucoma, HTG) and NTG with normal IOP (<21 mmHg). In our cohorts, we had differing number of these subtypes with some cohorts having more NTG or HTG than others. In this study, we also did not subdivide POAG subjects into HTG and NTG to discover subtype-specific variants, focusing instead on identifying genetic variants for the overarching phenotype of POAG. However, when <italic>CDC7</italic>-<italic>TGFBR3</italic> rs1192415 and <italic>FNDC3B</italic> rs4894796 were analyzed within NTG and HTG subgroups, they did not show differences in strength of association by subtype (data not shown).</p><p>All three loci we report in this study (<italic>CDKN2B-AS1</italic>, <italic>TGFBR3-CDC7</italic> and <italic>FNDC3B</italic>) contain genes which may contribute to the regulation of transforming growth factor-β (TGF-β) signaling. TGF-β has been implicated previously in glaucomatous optic nerve damage and RGC death (<xref rid="DDV128C40" ref-type="bibr">40</xref>–<xref rid="DDV128C42" ref-type="bibr">42</xref>). The TGF-β family includes TGFβ1, TGFβ2 and TGFβ3, all of which bind to TGF-β receptor type-2 (TGFBR2). All TGF-β family members are dimeric polypeptide growth factors that inhibit the progression of cell cycle, which in turn may lead to terminal differentiation or apoptosis (<xref rid="DDV128C40" ref-type="bibr">40</xref>,<xref rid="DDV128C43" ref-type="bibr">43</xref>,<xref rid="DDV128C44" ref-type="bibr">44</xref>). TGF-β also modulates developmental and repair processes in several tissues. TGF-β signaling has been implicated in a wide variety of diseases including inflammation, autoimmune disorders, fibrosis, cancer, cataracts as well as glaucoma (<xref rid="DDV128C40" ref-type="bibr">40</xref>,<xref rid="DDV128C43" ref-type="bibr">43</xref>,<xref rid="DDV128C44" ref-type="bibr">44</xref>). The most strongly POAG-associated locus, CDKN2B-AS1, has been shown to regulate the transcription of cyclin-dependent kinase inhibitor 2A and 2B (CDKN2A and CDKN2B) (<xref rid="DDV128C45" ref-type="bibr">45</xref>), which inhibit cell proliferation via the TGF-β pathway by inducing G1-phase cell cycle arrest (<xref rid="DDV128C44" ref-type="bibr">44</xref>). Burdon <italic>et al.</italic> reported the up-regulation of <italic>CDKN2A</italic> and <italic>CDKN2B</italic> in response to elevated IOP (<xref rid="DDV128C18" ref-type="bibr">18</xref>). Collectively, these data suggest a link between the most well-recognized physiological risk factor of POAG and a downstream molecular response that may lead to RGC death. In this context, both CDC7 and TGFBR3 are also of interest and could have relevance to glaucomatous optic nerve damage and RGC death.</p><p><italic>CDC7</italic> encodes a cell division cycle protein with kinase activity that also interacts with CDKN2A. TGFBR3 is a TGF-β super family co-receptor, and is the most abundant of all TGF-β receptors (<xref rid="DDV128C46" ref-type="bibr">46</xref>). Through protein crystallography, murine TGFR-3 ZP domain (ZP-C) has been recently identified as a novel major TGF-β-binding site (<xref rid="DDV128C47" ref-type="bibr">47</xref>). It has been suggested that TGFBR3 may serve to enhance the binding of TGF-β ligands to TGF-β type II receptors by binding TGF-β and presenting it to TGFBR2, the receptor for all three TGF-β ligands. A linkage between FNDC3B, an oncogene and TGF-β signaling was also reported recently by Cai <italic>et al</italic>. Overexpression of FNDC3B was shown to induce epithelial-to-mesenchymal transition and activate several cancer pathways, including PI3-kinase/Akt, Rb1 and TGF-β signaling (<xref rid="DDV128C48" ref-type="bibr">48</xref>). FNDC3B also induced expression of all three TGF-β ligands and promoted TGFBR1 cell-surface localization (<xref rid="DDV128C48" ref-type="bibr">48</xref>). This connection of POAG-associated genes/loci with the TGF-β signaling pathway therefore lends further credence to the hypothesis of TGFB pathway involvement in glaucoma.</p><p>However, despite these attractive speculations on the genes vicinal to the associated SNPs, it is possible that these variants may also affect distant as yet unidentified target genes. Definitive evidence for the involvement of these genes in the pathogenesis of POAG awaits confirmation in other datasets, as well as the identification and characterization of functional variants.</p></sec><sec sec-type="materials|methods" id="s4"><title>Materials and Methods</title><sec id="s4a"><title>Sample collections</title><sec id="s4a1"><title>Ethics statement</title><p>Ethics approval was obtained from the Centralized Institutional Review Board for the Singaporean patient sample and data collection and for the conduct of this study. All study protocols for patient and control sample collection were approved by the respective relevant Medical Ethics Committees of each participating site. All studies were conducted under the tenets of the Declaration of Helsinki with written informed consent obtained from all participants.</p></sec><sec id="s4a2"><title>POAG and health controls subjects inclusion criteria</title><p>POAG cases in this study were defined by the following criteria: the presence of glaucomatous optic neuropathy (defined as loss of neuroretinal rim with a vertical cup : disc ratio of >0.7 or an inter-eye asymmetry of >0.2 and/or notching attributable to glaucoma) with compatible visual field loss, open angles on gonioscopy, and absence of secondary causes of glaucomatous optic neuropathy. POAG patients with a mean IOP without treatment that is consistently <21 mmHg on diurnal testing are classified as having NTG, whereas those with a mean IOP without treatment that is consistently >21 mmHg are classified as having HTG. Patients who were unable to give informed consent, or with secondary glaucoma due to trauma, uveitis, neovascularization, pseudoexfoliation, pigment dispersion, etc., were excluded from this study.</p><p>Controls in this study were recruited in a hospital-based or population-based manner. Hospital-based controls were all generally over the age of 40 years and confirmed to have no sign of glaucoma or other major eye diseases except for mild cataract and mild refractive errors (defined as |SE| < 3D) by an ophthalmic examination. These subjects at time of recruitment had IOP of <21 mmHg with open angles, healthy optic nerves, normal visual fields, and no family history of glaucoma. Population-based controls were ethnically matched healthy individuals over the age of 40 years, unless indicated otherwise (see Table <xref ref-type="table" rid="DDV128TB1">1</xref>; <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material</ext-link> for more details of the samples used in this study).</p></sec></sec><sec id="s4b"><title>Genotyping and data QC</title><p>Study participants in the discovery stage were genotyped using the Illumina's Infinium HumanExomeBeadChip (Version 1.0) + Semi-Custom BeadChip (Illumina Inc.) that contains ∼250 000 SNPs of base content and an additional 25 000 East Asian-specific polymorphisms located on the coding frame. Stringent QC filters were applied after the laboratory work in genotyping completed. SNP markers that had missingness exceeding 5%, gross departure from HWE (<italic>P</italic>-value <1e−6) or were monomorphic were excluded from subsequent analysis. Likewise, individual samples with an overall call rate <95% were excluded. Samples were subjected to biological relationship verification by using the principle of variability in allele sharing according to the degree of relationship. Identity-by-state information was derived by PLINK. Those individuals who showed evidence of cryptic relatedness were removed before PC analysis was conducted. In addition, samples showing gender discrepancies between the clinical gender and genetically inferred gender were removed. A total of 1008 samples were excluded after rigorous application of QC filters (568 sample exclusions were due to PCA ancestral outliers, 246 were excluded due to per-sample call rate <95%, 168 were excluded due to first-degree familial relationships detected from the discovery stage exome-chip genotyping, and 26 were excluded due to suspicions of sample contamination). PC analysis was undertaken using EIGENSTRAT to account for spurious associations resulting from ancestral differences of individual SNPs (<xref rid="DDV128C49" ref-type="bibr">49</xref>). PCs showing significant effect on univariate analysis were used to correct for any underlying population substructure. We adjusted for the top three PCs (PC1–PC3) for Singapore, Hong Kong, Japan, USA-African Americans, China-Beijing and Vietnam. The Indian POAG collection was adjusted for the top 10 PCs (PC1–PC10), as there was more population substructure in this collection. After adjustment, we observed minimal evidence of genomic inflation (<italic>λ</italic><sub>GC</sub> = 1.042), thereby suggesting that this well-described method of controlling for population stratification was adequate in our study. Genotyping clouds for the key SNPs <italic>CDKN2B-AS1</italic> rs2157719, <italic>CDC7</italic>-<italic>TGFBR3</italic>rs1192415 and <italic>FNDC3B</italic>rs4894796 were directly visualized (<ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material, Fig. S5</ext-link>) to ensure good quality.</p><p>For Stage 2 (replication stage), genotyping was performed using the Sequenom MassArray platform (<uri xlink:type="simple" xlink:href="www.sequenom.com">www.sequenom.com</uri>). Samples recruited at the latter stage of replication were genotyped for the key SNPs <italic>CDC7</italic>-<italic>TGFBR3</italic>rs1192415, and <italic>FNDC3B</italic>rs4894796 using pre-developed Taqman Assays (Applied Biosystems, Foster City, CA, USA; <uri xlink:type="simple" xlink:href="www.appliedbiosystems.com">www.appliedbiosystems.com</uri>)</p></sec><sec id="s4c"><title>Statistical analysis</title><p>We contrasted the genotypes between POAG cases and healthy controls via single-SNP analysis using unconditional logistic regression fitted for genotype trend effects (1-degree-of-freedom score test). To do this, the PLINK software [version 1.07] (<xref rid="DDV128C50" ref-type="bibr">50</xref>) was used for modeling within a logistic regression framework, adjusting for age, gender and genetic ancestry (reflected by PCs). Manhattan and LD plots were created using Haploview [version 3.2] (<xref rid="DDV128C51" ref-type="bibr">51</xref>). Q–Q and regional association plots were created using the software R [<uri xlink:type="simple" xlink:href="www.r-project.org">www.r-project.org</uri> ] (<xref rid="DDV128C52" ref-type="bibr">52</xref>). Meta-analysis summarizing the results across all cohorts was performed using both fixed and random-effects modeling weighted in an inverse-variance manner (<xref rid="DDV128C53" ref-type="bibr">53</xref>). This method weighs each study according to effective sample size and cohort-specific MAF of the associated variants. To avoid an otherwise unacceptable number of false positive signals as an artifact of multiple testing, the threshold for exome-wide significance, <italic>P</italic> < 2 × 10<sup>−7</sup>, was considered to be statistically significant. Heterogeneity of the meta-analyses was calculated by measuring <italic>I</italic><sup>2</sup>.</p></sec><sec id="s4d"><title>Expression analysis of genes</title><p>Expression of <italic>CDC7</italic>, <italic>TGFBR3</italic> and <italic>FNDC3B</italic> was assessed by semi-quantitative reverse transcription–PCR (RT–PCR) using gene-specific primers (<italic>CDC7</italic>-forward 5′-TTTTCTCCCCAGCGTGACC-3′, <italic>CDC7</italic>-reverse 5′-GCAATTTTCTCTTCAGGTCCTAC-3′; <italic>TGFBR3</italic>-forward 5′-TCTCCTCAGTCCACATCCAC-3′, <italic>TGFBR3</italic>-reverse 5′-TGCTGATGAAAACTGGACCAC-3′; <italic>FNDC3B</italic>-forward 5′-AGCATCATCTTCCCCACACA-3′, <italic>FNDC3B</italic>-reverse 5′-AAGAAGGAGGGCTGTTGAGG-3′) on total RNA extracted from a variety of ocular tissues (cornea, sclera, retina and retinal pigment epithelium, iris, lens capsule and optic nerve) as described earlier (<xref rid="DDV128C54" ref-type="bibr">54</xref>). We used the ubiquitously expressed <italic>ACTB</italic> gene (forward 5′-CCAACCGCGAGAAGATGA-3′and reverse 5′-CCAGAGGCGTACAGGGATAG-3′) as amplification and normalizing control.</p></sec><sec id="s4e"><title>Western blotting</title><p>Cell lines obtained from American Type Culture Collection (Manassas, VA, USA) were the human retinal pigment epithelial cell line (APRE19), human Trabecular Meshwork cell line (HTM) was purchased from ScienCellResearch Laboratories (Carlsbad, CA, USA) and the human non-pigmented ciliary epithelial cell line (NPCE) is a kind gift from Prof. Miguel Coca-Prados from Yale School of Medicine. Cell lysates were obtained by lysing individual cell lines with lysis buffer (50 m<sc>m</sc> Tris–HCl, pH 8, 150 m<sc>m</sc> NaCl, 1.0% Nonidet P-40, 0.5% deoxycholate, 0.1% SDS, 0.2 m<sc>m</sc> NaVO<sub>4</sub>, 10 m<sc>m</sc> NaF, 0.4 m<sc>m</sc> EDTA and 10% glycerol). SDS–PAGE resolved proteins were transferred to Hybond-C Extra nitrocellulose membranes (Amersham Life Science Inc., Arlington Heights, IL, USA). Membranes were blocked and blotted by 5% nonfat milk, 0.1% Tween 20 in Tris-buffered saline (20 m<sc>m</sc> Tris–HCl, pH 7.6, 150 m<sc>m</sc> NaCl) for 1 h before incubation with FNDC3Bfor 1 h (1 : 250) (Sigma-Aldrich Corp., St. Louis, MO, USA). Actin-horseradish peroxidase (HRP) (1 : 50 000) from Santa Cruz Biotechnology (Dallas, TX, USA). The bound primary antibodies were detected by horseradish peroxidase-conjugated secondary antibodies (GE Healthcare Biosciences, Pittsburgh, PA, USA), and visualized by Luminata Forte Western HRP substrate (Millipore, Bedford, MA, USA).</p></sec><sec id="s4f"><title>Immunofluorescence confocal microscopy</title><p>Immunofluorescence confocal microscopy was performed on antigen retrieved 4 µm paraffin sections. Blocking of tissue sections was performed with blocking buffer (5% nonfat milk, 5% FBS, 0.1% PBS-Tween; 1× pen/strep) for 1 h at RT. FNDC3B antibody (Sigma-Aldrich Corp.) was diluted (1 : 50) into blocking buffer and incubated overnight at 4°C. Secondary FITC (1 : 300)-labelled anti-rabbit antibody (Jackson Laboratories, Westgrove, PA, USA) was also diluted in blocking buffer and incubated at RT for 1 h followed by application of Vectashield with 4′,6-diamidino-2-phenyl-indole (DAPI) (Vector Laboratories, Burlingame, CA, USA). Coverslips were then used to overlay the sections and stored in the dark at 4°C until viewing with Olympus Fluoview 1000 confocal microscope (Olympus Optical Co. Ltd., Tokyo, Japan).</p></sec></sec><sec sec-type="supplementary-material" id="s5"><title>Supplementary Material</title><p><ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv128/-/DC1">Supplementary Material is available at <italic>HMG</italic> online</ext-link>.</p><supplementary-material id="PMC_1" content-type="local-data"><caption><title>Supplementary Data</title></caption><media mimetype="text" mime-subtype="html" xlink:href="supp_24_13_3880__index.html"></media><media xlink:role="associated-file" mimetype="application" mime-subtype="msword" xlink:href="supp_ddv128_ddv128supp.docx"></media></supplementary-material></sec></body><back><ack><title>Acknowledgements</title><p>We thank all the study participants, the staff from all involved studies and sites who contributed to this study. The authors J.E.C., K.P.B., D.A.M., and others acknowledge the support of Ms Bronwyn Usher-Ridge in patient recruitment and data collection, and Dr Patrick Danoy and Dr Johanna Hadler for genotyping of the ANZRAG cohort. They also acknowledge David C. Whiteman and Graham Radford-Smith for providing access to the control samples used with the ANZRAG glaucoma cases. The authors D.M. thank Dr Philippe Gohier and Dr Ghislaine Jallet for patient recruitment and data collection and acknowledge the technical assistance provided by the Centre de Recherche Biologique (Dr Odile Blanchet) and Centre de Recherche Clinique (Pr Marc-Antoine Custeau), University Hospital, Angers, France. The Singapore study of E.N.V., T.A. and C.C.K was supported by a Biomedical Research Council (BMRC) grant in Singapore, Ref: BMRC 10/1/35/19/675. This research was also partly supported by a grant (NMRC/TCR/008-SERI/2013) from the Singapore National Research Foundation under its Translational and Clinical Research Flagship Programme and administered by the Singapore Ministry of Health's National Medical Research Council. We also acknowledge the following source of funding support for recruitment and genotyping of population-based cohorts SIMES and SCES: National Medical Research Council, Singapore (NMRC/TCR/002-SERI/2008, (R626/47/2008TCR), CSA R613/34/2008, NMRC 0796/2003, STaR/0003/2008), the National Research Foundation of Singapore, the Biomedical Research Council, Singapore (BMRC 09/1/35/ 19/616 and 08/1/35/19/550) and Genome Institute of Singapore (GIS/12-AR2105). The Singapore Tissue Network and the Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore provided services. The research of M.A.H. was supported by NIH R01 EY023646, EY13315 (MAH) and by P30-EY005722. The Japanese sample collection from Kyoto was supported by the grants from the Collaborative Development of Innovative Seeds of Japan Science and Technology Agency (JST) to M.K. and K.T., from the Ministry of Health, Labor and Welfare of Japan to M.N., K.M., K.T. and S.K., and from Santen Pharmaceutical Co. Ltd. to S.K. and K.T. The collection of Japanese POAG cases by N.F. was supported by a grant provided by the Ministry of Health, Labor and Welfare of Japan. The glaucoma research of WNL is supported by National Natural Science Foundation of China project (81030016). The research of Y. Chen was supported by National Natural Science Foundation of China (81200723) and glaucoma research of Xinghuai Sun was supported by Special Scientific Research Project of Health Professions (201302015). This research project was supported by the National Natural Science Foundation of China (81170883 (Z.Y.) and 81430008 (Z.Y.)). The glaucoma research of C.P.P. is supported by the Health and Medical Research Fund (HMRF, Ref: 01122236 and 11120801), Hong Kong and the General Research Fund from the Research Grants Council (grant number 468810), Hong Kong. Support for recruitment of Australian & New Zealand Registry of Advanced Glaucoma (ANZRAG) was provided by the Royal Australian and New Zealand College of Ophthalmology (RANZCO) Eye Foundation. Genotyping was funded by the National Health and Medical Research Council of Australia (#535074 and #1023911). This work was also supported by funding from NHMRC #1031362 awarded to Jamie E. Craig, NHMRC #1037838 awarded to Alex W. Hewitt, NHMRC #1048037 awarded to Stuart L. Graham, NHMRC #1009844 awarded to Robert J. Casson and Ivan Goldberg, NHMRC #1031920 and an Alcon Research Institute grant awarded to David A. Mackey, an Allergan Unrestricted grant awarded to Andrew J. White, the BrightFocus Foundation and a Ramaciotti Establishment Grant. S.M. is supported by Australian Research Council (ARC) and Australian National Health & Medical Research Council (NHMRC) Fellowships. Controls for the ANZRAG discovery cohort were drawn from the Australian Cancer Study, the Study of Digestive Health, and from a study of inflammatory bowel diseases. The Australian Cancer Study was supported by the Queensland Cancer Fund and the National Health and Medical Research Council (NHMRC) of Australia (Program no. 199600, awarded to David C. Whiteman, Adele C. Green, Nicholas K. Hayward, Peter G. Parsons, David M. Purdie and Penelope M. Webb, and program number 552429, awarded to David C. Whiteman). The Study of Digestive Health was supported by grant number 5 RO1 CA 001833 from the <funding-source>National Cancer Institute</funding-source> (awarded to David C. Whiteman). The Barrett's and Esophageal Adenocarcinoma Genetic Susceptibility Study (BEAGESS) sponsored the genotyping of oesophageal cancer and Barrett's oesophagus cases, which were used as unscreened controls in the ANZRAG discovery cohort. BEAGESS was funded by grant R01 CA136725 from the National Cancer Institute Collection of Saudi POAG cases and controls was supported by the Glaucoma Research Chair at College of Medicine, King Saud University, Riyadh, Saudi Arabia. NEI Glaucoma Human Genetics Collaboration (NEIGHBOR): genotyping services for the NEIGHBOR study were provided by the CIDR and were supported by the NEI through grant HG005259-01 (J.L.W.). Additionally, CIDR is funded through a federal contract from the NIH to The Johns Hopkins University, contract number HHSN268200782096C. Collecting and processing samples for the NEIGHBOR data set was supported by the NEI through American Recovery and Reinvestment Act (ARRA) grants 3R01EY015872-05S1 (J.L.W.) and 3R01EY019126-02S1 (M.A.H.). Genotype imputation and meta-analysis were supported by EY022305 (J.L.W.). Funding for the collection of cases and controls was provided by the following NIH grants: EY015543 (R.R. Allingham); EY006827 (D. Gaasterland); HL73042, HL073389, EY13315, EY023646 (M.A.H.); CA87969, CA49449, UM1 CA167552 (J.H. Kang); EY009149 (P.R. Lichter); HG004608 (C. McCarty); EY008208 (F.A. Medeiros); EY015473 (L.R.P.); EY012118 (M. Pericak-Vance); EY015682 (A. Realini); EY011671, EY09580 (J.E. Richards); EY013178 (J.S. Schuman); RR015574, EY015872, EY010886, EY009847, EY014104 (J.L.W.); EY011008, EY144428, EY144448 and EY18660 (K. Zhang). J.L.W. and L.R.P. are also supported by the Harvard Glaucoma Center for Excellence and Research to Prevent Blindness. J.N.C.B. is supported by NIH T32 EY007157 (CWRU) and T32 EY21453-2 (VUMC). MEEI case-control sample: genotyping for the Massachusetts Eye and Ear Infirmary (MEEI) case-control sample was performed at the Broad Institute of MIT and Harvard with funding support from the NIH GEI (Gene Environment Initiative) (U01HG04424 and U01HG004728). The GENEVA Coordinating Center (U01HG004446) assisted with genotype cleaning. Imputation was supported by NIH EY022305 (JLW). Collection of cases and controls was supported by NIH EY015872 (JLW) and NIH P30 014104 (JLW). Funding to pay the Open Access publication charges for this article was provided by Singapore Eye Research Institute.</p><p><italic>Conflict of Interest statement</italic>. 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