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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genome-wide association study of age-related macular degeneration identifies associated variants in the <italic>TNXB–FKBPL–NOTCH4</italic> region of chromosome 6p21.3</title><author><name sortKey="Cipriani, Valentina" sort="Cipriani, Valentina" uniqKey="Cipriani V" first="Valentina" last="Cipriani">Valentina Cipriani</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Leung, Hin Tak" sort="Leung, Hin Tak" uniqKey="Leung H" first="Hin-Tak" last="Leung">Hin-Tak Leung</name><affiliation><nlm:aff id="af3"><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af4"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese University of Hong Kong</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Plagnol, Vincent" sort="Plagnol, Vincent" uniqKey="Plagnol V" first="Vincent" last="Plagnol">Vincent Plagnol</name><affiliation><nlm:aff id="af5"><institution>UCL Genetics Institute</institution>,<addr-line>London WC1E 6BT</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Bunce, Catey" sort="Bunce, Catey" uniqKey="Bunce C" first="Catey" last="Bunce">Catey Bunce</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af6"><addr-line>Department of Infectious and Tropical Diseases, London School of Hygiene & Tropical Medicine</addr-line>,<institution>University of London</institution>,<addr-line>London WC1E 7HT</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Khan, Jane C" sort="Khan, Jane C" uniqKey="Khan J" first="Jane C." last="Khan">Jane C. Khan</name><affiliation><nlm:aff id="af3"><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af7"><addr-line>Department of Ophthalmology</addr-line>,<institution>Royal Perth Hospital</institution>,<addr-line>Perth, Western Australia 6001</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Shahid, Humma" sort="Shahid, Humma" uniqKey="Shahid H" first="Humma" last="Shahid">Humma Shahid</name><affiliation><nlm:aff id="af3"><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af8"><addr-line>Department of Ophthalmology</addr-line>,<institution>Addenbrooke's Hospital</institution>,<addr-line>Cambridge CB2 0QQ</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Harding, Simon P" sort="Harding, Simon P" uniqKey="Harding S" first="Simon P." last="Harding">Simon P. Harding</name><affiliation><nlm:aff id="af9"><addr-line>Department of Eye and Vision Sciences</addr-line>,<institution>Institute of Ageing and Chronic Disease, UCD Building, University of Liverpool</institution>,<addr-line>Liverpool L69 3GA</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Bishop, Paul N" sort="Bishop, Paul N" uniqKey="Bishop P" first="Paul N." last="Bishop">Paul N. Bishop</name><affiliation><nlm:aff id="af10"><addr-line>School of Biomedicine, Faculty of Medical and Human Sciences</addr-line>,<institution>University of Manchester</institution>,<addr-line>Manchester M13 9PT</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><institution>Centre for Advanced Discovery and Experimental Therapeutics, Manchester Academic Health Science Centre, Central Manchester Foundation Trust</institution>,<addr-line>Manchester M13 9PL</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Hayward, Caroline" sort="Hayward, Caroline" uniqKey="Hayward C" first="Caroline" last="Hayward">Caroline Hayward</name><affiliation><nlm:aff id="af12"><addr-line>Medical Research Council Human Genetics Unit</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Campbell, Susan" sort="Campbell, Susan" uniqKey="Campbell S" first="Susan" last="Campbell">Susan Campbell</name><affiliation><nlm:aff id="af12"><addr-line>Medical Research Council Human Genetics Unit</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Armbrecht, Ana Maria" sort="Armbrecht, Ana Maria" uniqKey="Armbrecht A" first="Ana Maria" last="Armbrecht">Ana Maria Armbrecht</name><affiliation><nlm:aff id="af13"><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Edinburgh and Princess Alexandra Eye Pavilion</institution>,<addr-line>Edinburgh EH3 9HA</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Dhillon, Baljean" sort="Dhillon, Baljean" uniqKey="Dhillon B" first="Baljean" last="Dhillon">Baljean Dhillon</name><affiliation><nlm:aff id="af13"><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Edinburgh and Princess Alexandra Eye Pavilion</institution>,<addr-line>Edinburgh EH3 9HA</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Deary, Ian J" sort="Deary, Ian J" uniqKey="Deary I" first="Ian J." last="Deary">Ian J. Deary</name><affiliation><nlm:aff id="af14"><addr-line>Department of Psychology</addr-line>,<institution>Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh</institution>,<addr-line>Edinburgh EH8 9JZ</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Campbell, Harry" sort="Campbell, Harry" uniqKey="Campbell H" first="Harry" last="Campbell">Harry Campbell</name><affiliation><nlm:aff id="af15"><addr-line>Colon Cancer Genetics Group</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af16"><addr-line>Centre for Population Health Sciences</addr-line>,<institution>University of Edinburgh</institution>,<addr-line>Edinburgh EH8 9AG</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Dunlop, Malcolm" sort="Dunlop, Malcolm" uniqKey="Dunlop M" first="Malcolm" last="Dunlop">Malcolm Dunlop</name><affiliation><nlm:aff id="af15"><addr-line>Colon Cancer Genetics Group</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Dominiczak, Anna F" sort="Dominiczak, Anna F" uniqKey="Dominiczak A" first="Anna F." last="Dominiczak">Anna F. Dominiczak</name><affiliation><nlm:aff id="af17"><addr-line>Institute of Cardiovascular and Medical Sciences</addr-line>,<institution>University of Glasgow</institution>,<addr-line>Glasgow G12 8QQ</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Mann, Samantha S" sort="Mann, Samantha S" uniqKey="Mann S" first="Samantha S." last="Mann">Samantha S. Mann</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af18"><institution>St Thomas' Hospital</institution>,<addr-line>London SE1 7EH</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Jenkins, Sharon A" sort="Jenkins, Sharon A" uniqKey="Jenkins S" first="Sharon A." last="Jenkins">Sharon A. Jenkins</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af19"><addr-line>Department of Inherited Cardiovascular Disease</addr-line>,<institution>The Heart Hospital</institution>,<addr-line>London, W1G 8PH</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Webster, Andrew R" sort="Webster, Andrew R" uniqKey="Webster A" first="Andrew R." last="Webster">Andrew R. Webster</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Bird, Alan C" sort="Bird, Alan C" uniqKey="Bird A" first="Alan C." last="Bird">Alan C. Bird</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation><nlm:aff id="af20"><institution>Centre National de Génotypage, Institut Génomique, Commissariat à l'Énergie Atomique</institution>,<addr-line>Evry</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af21"><addr-line>Fondation Jean Dausset-CEPH, Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name><affiliation><nlm:aff id="af20"><institution>Centre National de Génotypage, Institut Génomique, Commissariat à l'Énergie Atomique</institution>,<addr-line>Evry</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Souied, Eric H" sort="Souied, Eric H" uniqKey="Souied E" first="Eric H." last="Souied">Eric H. Souied</name><affiliation><nlm:aff id="af22"><institution>Centre Hospitalier Intercommunal de Créteil</institution>,<addr-line>Créteil</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Sahel, Jose Alain" sort="Sahel, Jose Alain" uniqKey="Sahel J" first="José-Alain" last="Sahel">José-Alain Sahel</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af23"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision, UPMC Univ Paris 06 UMR_S 968/INSERM U968/CNRS-UMR 7210</institution>,<addr-line>Paris F-75012</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af24"><institution>Clinical Investigation Center 503, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts</institution>,<addr-line>Paris F-75012</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Leveillard, Thierry" sort="Leveillard, Thierry" uniqKey="Leveillard T" first="Thierry" last="Léveillard">Thierry Léveillard</name><affiliation><nlm:aff id="af23"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision, UPMC Univ Paris 06 UMR_S 968/INSERM U968/CNRS-UMR 7210</institution>,<addr-line>Paris F-75012</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Cree, Angela J" sort="Cree, Angela J" uniqKey="Cree A" first="Angela J." last="Cree">Angela J. Cree</name><affiliation><nlm:aff wicri:cut=" and" id="af25"><addr-line>Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gibson, Jane" sort="Gibson, Jane" uniqKey="Gibson J" first="Jane" last="Gibson">Jane Gibson</name><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine</addr-line>,<institution>University of Southampton</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ennis, Sarah" sort="Ennis, Sarah" uniqKey="Ennis S" first="Sarah" last="Ennis">Sarah Ennis</name><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine</addr-line>,<institution>University of Southampton</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Lotery, Andrew J" sort="Lotery, Andrew J" uniqKey="Lotery A" first="Andrew J." last="Lotery">Andrew J. Lotery</name><affiliation><nlm:aff wicri:cut=" and" id="af25"><addr-line>Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af27"><addr-line>Southampton Eye Unit</addr-line>,<institution>Southampton General Hospital</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Wright, Alan F" sort="Wright, Alan F" uniqKey="Wright A" first="Alan F." last="Wright">Alan F. Wright</name><affiliation><nlm:aff id="af12"><addr-line>Medical Research Council Human Genetics Unit</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Clayton, David G" sort="Clayton, David G" uniqKey="Clayton D" first="David G." last="Clayton">David G. Clayton</name><affiliation><nlm:aff id="af3"><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Yates, John R W" sort="Yates, John R W" uniqKey="Yates J" first="John R. W." last="Yates">John R. W. Yates</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af3"><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22694956</idno><idno type="pmc">3428154</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428154</idno><idno type="RBID">PMC:3428154</idno><idno type="doi">10.1093/hmg/dds225</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001866</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001866</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genome-wide association study of age-related macular degeneration identifies associated variants in the <italic>TNXB–FKBPL–NOTCH4</italic> region of chromosome 6p21.3</title><author><name sortKey="Cipriani, Valentina" sort="Cipriani, Valentina" uniqKey="Cipriani V" first="Valentina" last="Cipriani">Valentina Cipriani</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Leung, Hin Tak" sort="Leung, Hin Tak" uniqKey="Leung H" first="Hin-Tak" last="Leung">Hin-Tak Leung</name><affiliation><nlm:aff id="af3"><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af4"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese University of Hong Kong</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</nlm:aff></affiliation></author><author><name sortKey="Plagnol, Vincent" sort="Plagnol, Vincent" uniqKey="Plagnol V" first="Vincent" last="Plagnol">Vincent Plagnol</name><affiliation><nlm:aff id="af5"><institution>UCL Genetics Institute</institution>,<addr-line>London WC1E 6BT</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Bunce, Catey" sort="Bunce, Catey" uniqKey="Bunce C" first="Catey" last="Bunce">Catey Bunce</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af6"><addr-line>Department of Infectious and Tropical Diseases, London School of Hygiene & Tropical Medicine</addr-line>,<institution>University of London</institution>,<addr-line>London WC1E 7HT</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Khan, Jane C" sort="Khan, Jane C" uniqKey="Khan J" first="Jane C." last="Khan">Jane C. Khan</name><affiliation><nlm:aff id="af3"><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af7"><addr-line>Department of Ophthalmology</addr-line>,<institution>Royal Perth Hospital</institution>,<addr-line>Perth, Western Australia 6001</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Shahid, Humma" sort="Shahid, Humma" uniqKey="Shahid H" first="Humma" last="Shahid">Humma Shahid</name><affiliation><nlm:aff id="af3"><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af8"><addr-line>Department of Ophthalmology</addr-line>,<institution>Addenbrooke's Hospital</institution>,<addr-line>Cambridge CB2 0QQ</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Harding, Simon P" sort="Harding, Simon P" uniqKey="Harding S" first="Simon P." last="Harding">Simon P. Harding</name><affiliation><nlm:aff id="af9"><addr-line>Department of Eye and Vision Sciences</addr-line>,<institution>Institute of Ageing and Chronic Disease, UCD Building, University of Liverpool</institution>,<addr-line>Liverpool L69 3GA</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Bishop, Paul N" sort="Bishop, Paul N" uniqKey="Bishop P" first="Paul N." last="Bishop">Paul N. Bishop</name><affiliation><nlm:aff id="af10"><addr-line>School of Biomedicine, Faculty of Medical and Human Sciences</addr-line>,<institution>University of Manchester</institution>,<addr-line>Manchester M13 9PT</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><institution>Centre for Advanced Discovery and Experimental Therapeutics, Manchester Academic Health Science Centre, Central Manchester Foundation Trust</institution>,<addr-line>Manchester M13 9PL</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Hayward, Caroline" sort="Hayward, Caroline" uniqKey="Hayward C" first="Caroline" last="Hayward">Caroline Hayward</name><affiliation><nlm:aff id="af12"><addr-line>Medical Research Council Human Genetics Unit</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Campbell, Susan" sort="Campbell, Susan" uniqKey="Campbell S" first="Susan" last="Campbell">Susan Campbell</name><affiliation><nlm:aff id="af12"><addr-line>Medical Research Council Human Genetics Unit</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Armbrecht, Ana Maria" sort="Armbrecht, Ana Maria" uniqKey="Armbrecht A" first="Ana Maria" last="Armbrecht">Ana Maria Armbrecht</name><affiliation><nlm:aff id="af13"><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Edinburgh and Princess Alexandra Eye Pavilion</institution>,<addr-line>Edinburgh EH3 9HA</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Dhillon, Baljean" sort="Dhillon, Baljean" uniqKey="Dhillon B" first="Baljean" last="Dhillon">Baljean Dhillon</name><affiliation><nlm:aff id="af13"><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Edinburgh and Princess Alexandra Eye Pavilion</institution>,<addr-line>Edinburgh EH3 9HA</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Deary, Ian J" sort="Deary, Ian J" uniqKey="Deary I" first="Ian J." last="Deary">Ian J. Deary</name><affiliation><nlm:aff id="af14"><addr-line>Department of Psychology</addr-line>,<institution>Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh</institution>,<addr-line>Edinburgh EH8 9JZ</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Campbell, Harry" sort="Campbell, Harry" uniqKey="Campbell H" first="Harry" last="Campbell">Harry Campbell</name><affiliation><nlm:aff id="af15"><addr-line>Colon Cancer Genetics Group</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af16"><addr-line>Centre for Population Health Sciences</addr-line>,<institution>University of Edinburgh</institution>,<addr-line>Edinburgh EH8 9AG</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Dunlop, Malcolm" sort="Dunlop, Malcolm" uniqKey="Dunlop M" first="Malcolm" last="Dunlop">Malcolm Dunlop</name><affiliation><nlm:aff id="af15"><addr-line>Colon Cancer Genetics Group</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Dominiczak, Anna F" sort="Dominiczak, Anna F" uniqKey="Dominiczak A" first="Anna F." last="Dominiczak">Anna F. Dominiczak</name><affiliation><nlm:aff id="af17"><addr-line>Institute of Cardiovascular and Medical Sciences</addr-line>,<institution>University of Glasgow</institution>,<addr-line>Glasgow G12 8QQ</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Mann, Samantha S" sort="Mann, Samantha S" uniqKey="Mann S" first="Samantha S." last="Mann">Samantha S. Mann</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af18"><institution>St Thomas' Hospital</institution>,<addr-line>London SE1 7EH</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Jenkins, Sharon A" sort="Jenkins, Sharon A" uniqKey="Jenkins S" first="Sharon A." last="Jenkins">Sharon A. Jenkins</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af19"><addr-line>Department of Inherited Cardiovascular Disease</addr-line>,<institution>The Heart Hospital</institution>,<addr-line>London, W1G 8PH</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Webster, Andrew R" sort="Webster, Andrew R" uniqKey="Webster A" first="Andrew R." last="Webster">Andrew R. Webster</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Bird, Alan C" sort="Bird, Alan C" uniqKey="Bird A" first="Alan C." last="Bird">Alan C. Bird</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name><affiliation><nlm:aff id="af20"><institution>Centre National de Génotypage, Institut Génomique, Commissariat à l'Énergie Atomique</institution>,<addr-line>Evry</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af21"><addr-line>Fondation Jean Dausset-CEPH, Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name><affiliation><nlm:aff id="af20"><institution>Centre National de Génotypage, Institut Génomique, Commissariat à l'Énergie Atomique</institution>,<addr-line>Evry</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Souied, Eric H" sort="Souied, Eric H" uniqKey="Souied E" first="Eric H." last="Souied">Eric H. Souied</name><affiliation><nlm:aff id="af22"><institution>Centre Hospitalier Intercommunal de Créteil</institution>,<addr-line>Créteil</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Sahel, Jose Alain" sort="Sahel, Jose Alain" uniqKey="Sahel J" first="José-Alain" last="Sahel">José-Alain Sahel</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af23"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision, UPMC Univ Paris 06 UMR_S 968/INSERM U968/CNRS-UMR 7210</institution>,<addr-line>Paris F-75012</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af24"><institution>Clinical Investigation Center 503, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts</institution>,<addr-line>Paris F-75012</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Leveillard, Thierry" sort="Leveillard, Thierry" uniqKey="Leveillard T" first="Thierry" last="Léveillard">Thierry Léveillard</name><affiliation><nlm:aff id="af23"><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision, UPMC Univ Paris 06 UMR_S 968/INSERM U968/CNRS-UMR 7210</institution>,<addr-line>Paris F-75012</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Cree, Angela J" sort="Cree, Angela J" uniqKey="Cree A" first="Angela J." last="Cree">Angela J. Cree</name><affiliation><nlm:aff wicri:cut=" and" id="af25"><addr-line>Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gibson, Jane" sort="Gibson, Jane" uniqKey="Gibson J" first="Jane" last="Gibson">Jane Gibson</name><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine</addr-line>,<institution>University of Southampton</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Ennis, Sarah" sort="Ennis, Sarah" uniqKey="Ennis S" first="Sarah" last="Ennis">Sarah Ennis</name><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine</addr-line>,<institution>University of Southampton</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Lotery, Andrew J" sort="Lotery, Andrew J" uniqKey="Lotery A" first="Andrew J." last="Lotery">Andrew J. Lotery</name><affiliation><nlm:aff wicri:cut=" and" id="af25"><addr-line>Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af27"><addr-line>Southampton Eye Unit</addr-line>,<institution>Southampton General Hospital</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Wright, Alan F" sort="Wright, Alan F" uniqKey="Wright A" first="Alan F." last="Wright">Alan F. Wright</name><affiliation><nlm:aff id="af12"><addr-line>Medical Research Council Human Genetics Unit</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Clayton, David G" sort="Clayton, David G" uniqKey="Clayton D" first="David G." last="Clayton">David G. Clayton</name><affiliation><nlm:aff id="af3"><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff></affiliation></author><author><name sortKey="Yates, John R W" sort="Yates, John R W" uniqKey="Yates J" first="John R. W." last="Yates">John R. W. Yates</name><affiliation><nlm:aff id="af1"><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af3"><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</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="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Age-related macular degeneration (AMD) is a leading cause of visual loss in Western populations. Susceptibility is influenced by age, environmental and genetic factors. Known genetic risk loci do not account for all the heritability. We therefore carried out a genome-wide association study of AMD in the UK population with 893 cases of advanced AMD and 2199 controls. This showed an association with the well-established AMD risk loci <italic>ARMS2</italic> (age-related maculopathy susceptibility 2)–<italic>HTRA1</italic> (HtrA serine peptidase 1) (<italic>P =</italic>2.7 × 10<sup>−72</sup>), <italic>CFH</italic> (complement factor H) (<italic>P =</italic>2.3 × 10<sup>−47</sup>), <italic>C2</italic> (complement component 2)–<italic>CFB</italic> (complement factor B) (<italic>P =</italic>5.2 × 10<sup>−9</sup>), <italic>C3</italic> (complement component 3) (<italic>P =</italic>2.2 × 10<sup>−3</sup>) and <italic>CFI</italic> (<italic>P =</italic>3.6 × 10<sup>−3</sup>) and with more recently reported risk loci at <italic>VEGFA</italic> (<italic>P =</italic>1.2 × 10<sup>−3</sup>) and <italic>LIPC</italic> (hepatic lipase) (<italic>P =</italic>0.04). Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at <italic>TNXB</italic> (tenascin XB)–<italic>FKBPL</italic> (FK506 binding protein like) [rs12153855/rs9391734; discovery <italic>P =</italic>4.3 × 10<sup>−7</sup>, replication <italic>P =</italic>3.0 × 10<sup>−4</sup>, combined <italic>P =</italic>1.3 × 10<sup>−9</sup>, odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3–1.6] and the neighbouring gene <italic>NOTCH4</italic> (Notch 4) (rs2071277; discovery <italic>P =</italic>3.2 × 10<sup>−8</sup>, replication <italic>P =</italic>3.8 × 10<sup>−5</sup>, combined <italic>P =</italic>2.0 × 10<sup>−11</sup>, OR = 1.3, 95% CI = 1.2–1.4). These associations remained significant in conditional analyses which included the adjacent <italic>C2</italic>–<italic>CFB</italic> locus. <italic>TNXB</italic>, <italic>FKBPL</italic> and <italic>NOTCH4</italic> are all plausible AMD susceptibility genes, but further research will be needed to identify the causal variants and determine whether any of these genes are involved in the pathogenesis of AMD.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<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">22694956</article-id><article-id pub-id-type="pmc">3428154</article-id><article-id pub-id-type="doi">10.1093/hmg/dds225</article-id><article-id pub-id-type="publisher-id">dds225</article-id><article-categories><subj-group subj-group-type="heading"><subject>Association Studies Article</subject></subj-group></article-categories><title-group><article-title>Genome-wide association study of age-related macular degeneration identifies associated variants in the <italic>TNXB–FKBPL–NOTCH4</italic> region of chromosome 6p21.3</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Cipriani</surname><given-names>Valentina</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><contrib contrib-type="author"><name><surname>Leung</surname><given-names>Hin-Tak</given-names></name><xref ref-type="aff" rid="af3">3</xref><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Plagnol</surname><given-names>Vincent</given-names></name><xref ref-type="aff" rid="af5">5</xref></contrib><contrib contrib-type="author"><name><surname>Bunce</surname><given-names>Catey</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Khan</surname><given-names>Jane C.</given-names></name><xref ref-type="aff" rid="af3">3</xref><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Shahid</surname><given-names>Humma</given-names></name><xref ref-type="aff" rid="af3">3</xref><xref ref-type="aff" rid="af8">8</xref></contrib><contrib contrib-type="author"><name><surname>Moore</surname><given-names>Anthony T.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Harding</surname><given-names>Simon P.</given-names></name><xref ref-type="aff" rid="af9">9</xref></contrib><contrib contrib-type="author"><name><surname>Bishop</surname><given-names>Paul N.</given-names></name><xref ref-type="aff" rid="af10">10</xref><xref ref-type="aff" rid="af11">11</xref></contrib><contrib contrib-type="author"><name><surname>Hayward</surname><given-names>Caroline</given-names></name><xref ref-type="aff" rid="af12">12</xref></contrib><contrib contrib-type="author"><name><surname>Campbell</surname><given-names>Susan</given-names></name><xref ref-type="aff" rid="af12">12</xref></contrib><contrib contrib-type="author"><name><surname>Armbrecht</surname><given-names>Ana Maria</given-names></name><xref ref-type="aff" rid="af13">13</xref></contrib><contrib contrib-type="author"><name><surname>Dhillon</surname><given-names>Baljean</given-names></name><xref ref-type="aff" rid="af13">13</xref></contrib><contrib contrib-type="author"><name><surname>Deary</surname><given-names>Ian J.</given-names></name><xref ref-type="aff" rid="af14">14</xref></contrib><contrib contrib-type="author"><name><surname>Campbell</surname><given-names>Harry</given-names></name><xref ref-type="aff" rid="af15">15</xref><xref ref-type="aff" rid="af16">16</xref></contrib><contrib contrib-type="author"><name><surname>Dunlop</surname><given-names>Malcolm</given-names></name><xref ref-type="aff" rid="af15">15</xref></contrib><contrib contrib-type="author"><name><surname>Dominiczak</surname><given-names>Anna F.</given-names></name><xref ref-type="aff" rid="af17">17</xref></contrib><contrib contrib-type="author"><name><surname>Mann</surname><given-names>Samantha S.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="aff" rid="af18">18</xref></contrib><contrib contrib-type="author"><name><surname>Jenkins</surname><given-names>Sharon A.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="aff" rid="af19">19</xref></contrib><contrib contrib-type="author"><name><surname>Webster</surname><given-names>Andrew R.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Bird</surname><given-names>Alan C.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Lathrop</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="af20">20</xref><xref ref-type="aff" rid="af21">21</xref></contrib><contrib contrib-type="author"><name><surname>Zelenika</surname><given-names>Diana</given-names></name><xref ref-type="aff" rid="af20">20</xref></contrib><contrib contrib-type="author"><name><surname>Souied</surname><given-names>Eric H.</given-names></name><xref ref-type="aff" rid="af22">22</xref></contrib><contrib contrib-type="author"><name><surname>Sahel</surname><given-names>José-Alain</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af23">23</xref><xref ref-type="aff" rid="af24">24</xref></contrib><contrib contrib-type="author"><name><surname>Léveillard</surname><given-names>Thierry</given-names></name><xref ref-type="aff" rid="af23">23</xref></contrib><contrib contrib-type="author"><collab>French AMD Investigators</collab><xref ref-type="author-notes" rid="AN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Cree</surname><given-names>Angela J.</given-names></name><xref ref-type="aff" rid="af25">25</xref></contrib><contrib contrib-type="author"><name><surname>Gibson</surname><given-names>Jane</given-names></name><xref ref-type="aff" rid="af26">26</xref></contrib><contrib contrib-type="author"><name><surname>Ennis</surname><given-names>Sarah</given-names></name><xref ref-type="aff" rid="af26">26</xref></contrib><contrib contrib-type="author"><name><surname>Lotery</surname><given-names>Andrew J.</given-names></name><xref ref-type="aff" rid="af25">25</xref><xref ref-type="aff" rid="af27">27</xref></contrib><contrib contrib-type="author"><name><surname>Wright</surname><given-names>Alan F.</given-names></name><xref ref-type="aff" rid="af12">12</xref></contrib><contrib contrib-type="author"><name><surname>Clayton</surname><given-names>David G.</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Yates</surname><given-names>John R.W.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref><xref ref-type="aff" rid="af3">3</xref></contrib></contrib-group><aff id="af1"><label>1</label><institution>Institute of Ophthalmology, University College London</institution>,<addr-line>London EC1V 9EL</addr-line>,<country>UK</country>,</aff><aff id="af2"><label>2</label><institution>Moorfields Eye Hospital</institution>,<addr-line>London EC1V 2PD</addr-line>,<country>UK</country>,</aff><aff id="af3"><label>3</label><addr-line>Department of Medical Genetics,</addr-line><institution>Cambridge Institute for Medical Research, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</aff><aff id="af4"><label>4</label><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>,<institution>The Chinese University of Hong Kong</institution>,<addr-line>Hong Kong</addr-line>,<country>China</country>,</aff><aff id="af5"><label>5</label><institution>UCL Genetics Institute</institution>,<addr-line>London WC1E 6BT</addr-line>,<country>UK</country>,</aff><aff id="af6"><label>6</label><addr-line>Department of Infectious and Tropical Diseases, London School of Hygiene & Tropical Medicine</addr-line>,<institution>University of London</institution>,<addr-line>London WC1E 7HT</addr-line>,<country>UK</country>,</aff><aff id="af7"><label>7</label><addr-line>Department of Ophthalmology</addr-line>,<institution>Royal Perth Hospital</institution>,<addr-line>Perth, Western Australia 6001</addr-line>,<country>Australia</country>,</aff><aff id="af8"><label>8</label><addr-line>Department of Ophthalmology</addr-line>,<institution>Addenbrooke's Hospital</institution>,<addr-line>Cambridge CB2 0QQ</addr-line>,<country>UK</country>,</aff><aff id="af9"><label>9</label><addr-line>Department of Eye and Vision Sciences</addr-line>,<institution>Institute of Ageing and Chronic Disease, UCD Building, University of Liverpool</institution>,<addr-line>Liverpool L69 3GA</addr-line>,<country>UK</country>,</aff><aff id="af10"><label>10</label><addr-line>School of Biomedicine, Faculty of Medical and Human Sciences</addr-line>,<institution>University of Manchester</institution>,<addr-line>Manchester M13 9PT</addr-line>,<country>UK</country>,</aff><aff id="af11"><label>11</label><institution>Centre for Advanced Discovery and Experimental Therapeutics, Manchester Academic Health Science Centre, Central Manchester Foundation Trust</institution>,<addr-line>Manchester M13 9PL</addr-line>,<country>UK</country>,</aff><aff id="af12"><label>12</label><addr-line>Medical Research Council Human Genetics Unit</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</aff><aff id="af13"><label>13</label><addr-line>Department of Ophthalmology</addr-line>,<institution>University of Edinburgh and Princess Alexandra Eye Pavilion</institution>,<addr-line>Edinburgh EH3 9HA</addr-line>,<country>UK</country>,</aff><aff id="af14"><label>14</label><addr-line>Department of Psychology</addr-line>,<institution>Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh</institution>,<addr-line>Edinburgh EH8 9JZ</addr-line>,<country>UK</country>,</aff><aff id="af15"><label>15</label><addr-line>Colon Cancer Genetics Group</addr-line>,<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit</institution>,<addr-line>Edinburgh EH4 2XU</addr-line>,<country>UK</country>,</aff><aff id="af16"><label>16</label><addr-line>Centre for Population Health Sciences</addr-line>,<institution>University of Edinburgh</institution>,<addr-line>Edinburgh EH8 9AG</addr-line>,<country>UK</country>,</aff><aff id="af17"><label>17</label><addr-line>Institute of Cardiovascular and Medical Sciences</addr-line>,<institution>University of Glasgow</institution>,<addr-line>Glasgow G12 8QQ</addr-line>,<country>UK</country>,</aff><aff id="af18"><label>18</label><institution>St Thomas' Hospital</institution>,<addr-line>London SE1 7EH</addr-line>,<country>UK</country>,</aff><aff id="af19"><label>19</label><addr-line>Department of Inherited Cardiovascular Disease</addr-line>,<institution>The Heart Hospital</institution>,<addr-line>London, W1G 8PH</addr-line>,<country>UK</country>,</aff><aff id="af20"><label>20</label><institution>Centre National de Génotypage, Institut Génomique, Commissariat à l'Énergie Atomique</institution>,<addr-line>Evry</addr-line>,<country>France</country>,</aff><aff id="af21"><label>21</label><addr-line>Fondation Jean Dausset-CEPH, Paris</addr-line>,<country>France</country>,</aff><aff id="af22"><label>22</label><institution>Centre Hospitalier Intercommunal de Créteil</institution>,<addr-line>Créteil</addr-line>,<country>France</country>,</aff><aff id="af23"><label>23</label><addr-line>Department of Genetics</addr-line>,<institution>Institut de la Vision, UPMC Univ Paris 06 UMR_S 968/INSERM U968/CNRS-UMR 7210</institution>,<addr-line>Paris F-75012</addr-line>,<country>France</country>,</aff><aff id="af24"><label>24</label><institution>Clinical Investigation Center 503, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts</institution>,<addr-line>Paris F-75012</addr-line>,<country>France</country>,</aff><aff id="af25"><label>25</label><addr-line>Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences</addr-line> and</aff><aff id="af26"><label>26</label><addr-line>Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine</addr-line>,<institution>University of Southampton</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country> and</aff><aff id="af27"><label>27</label><addr-line>Southampton Eye Unit</addr-line>,<institution>Southampton General Hospital</institution>,<addr-line>Southampton SO16 6YD</addr-line>,<country>UK</country></aff><author-notes><corresp id="cor1"><label>*</label>To whom correspondence should be addressed at: Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK. Tel: +<phone>44 2076086911</phone>; Fax: +<fax>44 2076086830</fax>; Email: <email>v.cipriani@ucl.ac.uk</email></corresp><fn id="AN1"><label>†</label><p>Members are listed in <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/dds225/-/DC1">Supplementary Material</ext-link>.</p></fn></author-notes><pub-date pub-type="ppub"><day>15</day><month>9</month><year>2012</year></pub-date><pub-date pub-type="epub"><day>13</day><month>6</month><year>2012</year></pub-date><volume>21</volume><issue>18</issue><fpage>4138</fpage><lpage>4150</lpage><history><date date-type="received"><day>25</day><month>2</month><year>2012</year></date><date date-type="rev-recd"><day>23</day><month>5</month><year>2012</year></date><date date-type="accepted"><day>5</day><month>6</month><year>2012</year></date></history><permissions><copyright-statement>© The Author 2012. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com</copyright-statement><copyright-year>2012</copyright-year></permissions><self-uri content-type="pdf" xlink:type="simple" xlink:href="dds225.pdf"></self-uri><abstract><p>Age-related macular degeneration (AMD) is a leading cause of visual loss in Western populations. Susceptibility is influenced by age, environmental and genetic factors. Known genetic risk loci do not account for all the heritability. We therefore carried out a genome-wide association study of AMD in the UK population with 893 cases of advanced AMD and 2199 controls. This showed an association with the well-established AMD risk loci <italic>ARMS2</italic> (age-related maculopathy susceptibility 2)–<italic>HTRA1</italic> (HtrA serine peptidase 1) (<italic>P =</italic>2.7 × 10<sup>−72</sup>), <italic>CFH</italic> (complement factor H) (<italic>P =</italic>2.3 × 10<sup>−47</sup>), <italic>C2</italic> (complement component 2)–<italic>CFB</italic> (complement factor B) (<italic>P =</italic>5.2 × 10<sup>−9</sup>), <italic>C3</italic> (complement component 3) (<italic>P =</italic>2.2 × 10<sup>−3</sup>) and <italic>CFI</italic> (<italic>P =</italic>3.6 × 10<sup>−3</sup>) and with more recently reported risk loci at <italic>VEGFA</italic> (<italic>P =</italic>1.2 × 10<sup>−3</sup>) and <italic>LIPC</italic> (hepatic lipase) (<italic>P =</italic>0.04). Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at <italic>TNXB</italic> (tenascin XB)–<italic>FKBPL</italic> (FK506 binding protein like) [rs12153855/rs9391734; discovery <italic>P =</italic>4.3 × 10<sup>−7</sup>, replication <italic>P =</italic>3.0 × 10<sup>−4</sup>, combined <italic>P =</italic>1.3 × 10<sup>−9</sup>, odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3–1.6] and the neighbouring gene <italic>NOTCH4</italic> (Notch 4) (rs2071277; discovery <italic>P =</italic>3.2 × 10<sup>−8</sup>, replication <italic>P =</italic>3.8 × 10<sup>−5</sup>, combined <italic>P =</italic>2.0 × 10<sup>−11</sup>, OR = 1.3, 95% CI = 1.2–1.4). These associations remained significant in conditional analyses which included the adjacent <italic>C2</italic>–<italic>CFB</italic> locus. <italic>TNXB</italic>, <italic>FKBPL</italic> and <italic>NOTCH4</italic> are all plausible AMD susceptibility genes, but further research will be needed to identify the causal variants and determine whether any of these genes are involved in the pathogenesis of AMD.</p></abstract><counts><page-count count="13"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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