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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Heritability and Genome-wide Association Study To Assess Genetic Differences Between Advanced Age-Related Macular Degeneration Subtypes
</title>
<author><name sortKey="Sobrin, Lucia" sort="Sobrin, Lucia" uniqKey="Sobrin L" first="Lucia" last="Sobrin">Lucia Sobrin</name>
<affiliation><nlm:aff id="A1">Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Harvard Medical School, Boston, Massachusetts 02114</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ripke, Stephan" sort="Ripke, Stephan" uniqKey="Ripke S" first="Stephan" last="Ripke">Stephan Ripke</name>
<affiliation><nlm:aff id="A2">Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114 and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Yu, Yi" sort="Yu, Yi" uniqKey="Yu Y" first="Yi" last="Yu">Yi Yu</name>
<affiliation><nlm:aff id="A3">Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 Washington St. #450, Boston, MA 02111</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Fagerness, Jesen" sort="Fagerness, Jesen" uniqKey="Fagerness J" first="Jesen" last="Fagerness">Jesen Fagerness</name>
<affiliation><nlm:aff id="A2">Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114 and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bhangale, Tushar R" sort="Bhangale, Tushar R" uniqKey="Bhangale T" first="Tushar R." last="Bhangale">Tushar R. Bhangale</name>
<affiliation><nlm:aff id="A4">Department of Bioinformatics and Computational Biology, Genentech Inc, South San Francisco, CA 94080</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Tan, Perciliz L" sort="Tan, Perciliz L" uniqKey="Tan P" first="Perciliz L." last="Tan">Perciliz L. Tan</name>
<affiliation><nlm:aff id="A5">Center for Human Disease Modeling and Departments of Cell Biology and Pediatrics, Duke University, Durham, NC 27710</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="A6">Department of Ophthalmology, University Paris Est Creteil, Hopital Intercommunal de Creteil, Creteil, 94000, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A7">Faculté de Médecine Henri Mondor, Department of ophthalmology. UPEC, Créteil, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Buitendijk, Gabrielle H S" sort="Buitendijk, Gabrielle H S" uniqKey="Buitendijk G" first="Gabriëlle H. S." last="Buitendijk">Gabriëlle H. S. Buitendijk</name>
<affiliation><nlm:aff id="A8">Department Ophthalmology, Department Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Merriam, Joanna E" sort="Merriam, Joanna E" uniqKey="Merriam J" first="Joanna E." last="Merriam">Joanna E. Merriam</name>
<affiliation><nlm:aff id="A9">Department of Ophthalmology, Columbia University, New York, NY, 10032</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Richardson, Andrea J" sort="Richardson, Andrea J" uniqKey="Richardson A" first="Andrea J." last="Richardson">Andrea J. Richardson</name>
<affiliation><nlm:aff id="A10">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Raychaudhuri, Soumya" sort="Raychaudhuri, Soumya" uniqKey="Raychaudhuri S" first="Soumya" last="Raychaudhuri">Soumya Raychaudhuri</name>
<affiliation><nlm:aff id="A11">Divisions of Genetics and Rheumatology, Brigham and Women’s Hospital, Boston, MA 02115</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Reynolds, Robyn" sort="Reynolds, Robyn" uniqKey="Reynolds R" first="Robyn" last="Reynolds">Robyn Reynolds</name>
<affiliation><nlm:aff id="A3">Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 Washington St. #450, Boston, MA 02111</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Chin, Kimberly A" sort="Chin, Kimberly A" uniqKey="Chin K" first="Kimberly A." last="Chin">Kimberly A. Chin</name>
<affiliation><nlm:aff id="A3">Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 Washington St. #450, Boston, MA 02111</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lee, Aaron Y" sort="Lee, Aaron Y" uniqKey="Lee A" first="Aaron Y." last="Lee">Aaron Y. Lee</name>
<affiliation><nlm:aff id="A12">Ophthalmology & Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA and Barnes Retina Institute, St. Louis, MO 63144</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Leveziel, Nicolas" sort="Leveziel, Nicolas" uniqKey="Leveziel N" first="Nicolas" last="Leveziel">Nicolas Leveziel</name>
<affiliation><nlm:aff id="A6">Department of Ophthalmology, University Paris Est Creteil, Hopital Intercommunal de Creteil, Creteil, 94000, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A7">Faculté de Médecine Henri Mondor, Department of ophthalmology. UPEC, Créteil, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zack, Donald J" sort="Zack, Donald J" uniqKey="Zack D" first="Donald J." last="Zack">Donald J. Zack</name>
<affiliation><nlm:aff id="A13">McKusick-Nathans Institute of Genetic Medicine, Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A14">Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A15">Department of Molecular Biology and Genetics and Institut de la Vision, UPMC, Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Campochiaro, Peter" sort="Campochiaro, Peter" uniqKey="Campochiaro P" first="Peter" last="Campochiaro">Peter Campochiaro</name>
<affiliation><nlm:aff id="A13">McKusick-Nathans Institute of Genetic Medicine, Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A14">Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Smith, R Theodore" sort="Smith, R Theodore" uniqKey="Smith R" first="R. Theodore" last="Smith">R. Theodore Smith</name>
<affiliation><nlm:aff id="A9">Department of Ophthalmology, Columbia University, New York, NY, 10032</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Barile, Gaetano R" sort="Barile, Gaetano R" uniqKey="Barile G" first="Gaetano R." last="Barile">Gaetano R. Barile</name>
<affiliation><nlm:aff id="A9">Department of Ophthalmology, Columbia University, New York, NY, 10032</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hogg, Ruth E" sort="Hogg, Ruth E" uniqKey="Hogg R" first="Ruth E." last="Hogg">Ruth E. Hogg</name>
<affiliation><nlm:aff id="A16">Center for Vision and Vascular Science,The Queen’s University, Belfast, Northern Ireland.</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Chakravarthy, Usha" sort="Chakravarthy, Usha" uniqKey="Chakravarthy U" first="Usha" last="Chakravarthy">Usha Chakravarthy</name>
<affiliation><nlm:aff id="A16">Center for Vision and Vascular Science,The Queen’s University, Belfast, Northern Ireland.</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Behrens, Timothy W" sort="Behrens, Timothy W" uniqKey="Behrens T" first="Timothy W." last="Behrens">Timothy W. Behrens</name>
<affiliation><nlm:aff id="A17">ITGR Human Genetics Group, Genentech Inc, South San Francisco, CA 94080</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="André G." last="Uitterlinden">André G. Uitterlinden</name>
<affiliation><nlm:aff id="A18">Department Epidemiology, Department Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M." last="Van Duijn">Cornelia M. Van Duijn</name>
<affiliation><nlm:aff id="A19">Department Epidemiology, Erasmus Medical Center Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vingerling, Johannes R" sort="Vingerling, Johannes R" uniqKey="Vingerling J" first="Johannes R." last="Vingerling">Johannes R. Vingerling</name>
<affiliation><nlm:aff id="A8">Department Ophthalmology, Department Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brantley, Milam A" sort="Brantley, Milam A" uniqKey="Brantley M" first="Milam A." last="Brantley">Milam A. Brantley</name>
<affiliation><nlm:aff id="A12">Ophthalmology & Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA and Barnes Retina Institute, St. Louis, MO 63144</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Baird, Paul N" sort="Baird, Paul N" uniqKey="Baird P" first="Paul N." last="Baird">Paul N. Baird</name>
<affiliation><nlm:aff id="A10">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Klaver, Caroline C W" sort="Klaver, Caroline C W" uniqKey="Klaver C" first="Caroline C. W." last="Klaver">Caroline C. W. Klaver</name>
<affiliation><nlm:aff id="A8">Department Ophthalmology, Department Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Allikmets, Rando" sort="Allikmets, Rando" uniqKey="Allikmets R" first="Rando" last="Allikmets">Rando Allikmets</name>
<affiliation><nlm:aff id="A9">Department of Ophthalmology, Columbia University, New York, NY, 10032</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A20">Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Katsanis, Nicholas" sort="Katsanis, Nicholas" uniqKey="Katsanis N" first="Nicholas" last="Katsanis">Nicholas Katsanis</name>
<affiliation><nlm:aff id="A5">Center for Human Disease Modeling and Departments of Cell Biology and Pediatrics, Duke University, Durham, NC 27710</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Graham, Robert R" sort="Graham, Robert R" uniqKey="Graham R" first="Robert R." last="Graham">Robert R. Graham</name>
<affiliation><nlm:aff id="A17">ITGR Human Genetics Group, Genentech Inc, South San Francisco, CA 94080</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John P. A." last="Ioannidis">John P. A. Ioannidis</name>
<affiliation><nlm:aff id="A21">Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina 45110, Greece</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A22">Stanford Prevention Research Center, Department of Medicine, and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA 94305, USA;</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A23">Center for Genetic Epidemiology and Modeling, ICRHPS, and Tufts Clinical and Translational Science Institute, Tufts Medical Center, Tufts University School of Medicine, Boston, MA 02111, USA;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J." last="Daly">Mark J. Daly</name>
<affiliation><nlm:aff id="A2">Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114 and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Seddon, Johanna M" sort="Seddon, Johanna M" uniqKey="Seddon J" first="Johanna M." last="Seddon">Johanna M. Seddon</name>
<affiliation><nlm:aff id="A3">Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 Washington St. #450, Boston, MA 02111</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A24">Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts 02111, USA</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">22705344</idno>
<idno type="pmc">3899891</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899891</idno>
<idno type="RBID">PMC:3899891</idno>
<idno type="doi">10.1016/j.ophtha.2012.03.014</idno>
<date when="2012">2012</date>
<idno type="wicri:Area/Pmc/Corpus">001F80</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001F80</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Heritability and Genome-wide Association Study To Assess Genetic Differences Between Advanced Age-Related Macular Degeneration Subtypes
</title>
<author><name sortKey="Sobrin, Lucia" sort="Sobrin, Lucia" uniqKey="Sobrin L" first="Lucia" last="Sobrin">Lucia Sobrin</name>
<affiliation><nlm:aff id="A1">Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Harvard Medical School, Boston, Massachusetts 02114</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ripke, Stephan" sort="Ripke, Stephan" uniqKey="Ripke S" first="Stephan" last="Ripke">Stephan Ripke</name>
<affiliation><nlm:aff id="A2">Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114 and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Yu, Yi" sort="Yu, Yi" uniqKey="Yu Y" first="Yi" last="Yu">Yi Yu</name>
<affiliation><nlm:aff id="A3">Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 Washington St. #450, Boston, MA 02111</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Fagerness, Jesen" sort="Fagerness, Jesen" uniqKey="Fagerness J" first="Jesen" last="Fagerness">Jesen Fagerness</name>
<affiliation><nlm:aff id="A2">Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114 and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bhangale, Tushar R" sort="Bhangale, Tushar R" uniqKey="Bhangale T" first="Tushar R." last="Bhangale">Tushar R. Bhangale</name>
<affiliation><nlm:aff id="A4">Department of Bioinformatics and Computational Biology, Genentech Inc, South San Francisco, CA 94080</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Tan, Perciliz L" sort="Tan, Perciliz L" uniqKey="Tan P" first="Perciliz L." last="Tan">Perciliz L. Tan</name>
<affiliation><nlm:aff id="A5">Center for Human Disease Modeling and Departments of Cell Biology and Pediatrics, Duke University, Durham, NC 27710</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="A6">Department of Ophthalmology, University Paris Est Creteil, Hopital Intercommunal de Creteil, Creteil, 94000, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A7">Faculté de Médecine Henri Mondor, Department of ophthalmology. UPEC, Créteil, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Buitendijk, Gabrielle H S" sort="Buitendijk, Gabrielle H S" uniqKey="Buitendijk G" first="Gabriëlle H. S." last="Buitendijk">Gabriëlle H. S. Buitendijk</name>
<affiliation><nlm:aff id="A8">Department Ophthalmology, Department Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Merriam, Joanna E" sort="Merriam, Joanna E" uniqKey="Merriam J" first="Joanna E." last="Merriam">Joanna E. Merriam</name>
<affiliation><nlm:aff id="A9">Department of Ophthalmology, Columbia University, New York, NY, 10032</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Richardson, Andrea J" sort="Richardson, Andrea J" uniqKey="Richardson A" first="Andrea J." last="Richardson">Andrea J. Richardson</name>
<affiliation><nlm:aff id="A10">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Raychaudhuri, Soumya" sort="Raychaudhuri, Soumya" uniqKey="Raychaudhuri S" first="Soumya" last="Raychaudhuri">Soumya Raychaudhuri</name>
<affiliation><nlm:aff id="A11">Divisions of Genetics and Rheumatology, Brigham and Women’s Hospital, Boston, MA 02115</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Reynolds, Robyn" sort="Reynolds, Robyn" uniqKey="Reynolds R" first="Robyn" last="Reynolds">Robyn Reynolds</name>
<affiliation><nlm:aff id="A3">Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 Washington St. #450, Boston, MA 02111</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Chin, Kimberly A" sort="Chin, Kimberly A" uniqKey="Chin K" first="Kimberly A." last="Chin">Kimberly A. Chin</name>
<affiliation><nlm:aff id="A3">Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 Washington St. #450, Boston, MA 02111</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Lee, Aaron Y" sort="Lee, Aaron Y" uniqKey="Lee A" first="Aaron Y." last="Lee">Aaron Y. Lee</name>
<affiliation><nlm:aff id="A12">Ophthalmology & Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA and Barnes Retina Institute, St. Louis, MO 63144</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Leveziel, Nicolas" sort="Leveziel, Nicolas" uniqKey="Leveziel N" first="Nicolas" last="Leveziel">Nicolas Leveziel</name>
<affiliation><nlm:aff id="A6">Department of Ophthalmology, University Paris Est Creteil, Hopital Intercommunal de Creteil, Creteil, 94000, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A7">Faculté de Médecine Henri Mondor, Department of ophthalmology. UPEC, Créteil, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zack, Donald J" sort="Zack, Donald J" uniqKey="Zack D" first="Donald J." last="Zack">Donald J. Zack</name>
<affiliation><nlm:aff id="A13">McKusick-Nathans Institute of Genetic Medicine, Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A14">Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A15">Department of Molecular Biology and Genetics and Institut de la Vision, UPMC, Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Campochiaro, Peter" sort="Campochiaro, Peter" uniqKey="Campochiaro P" first="Peter" last="Campochiaro">Peter Campochiaro</name>
<affiliation><nlm:aff id="A13">McKusick-Nathans Institute of Genetic Medicine, Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A14">Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Smith, R Theodore" sort="Smith, R Theodore" uniqKey="Smith R" first="R. Theodore" last="Smith">R. Theodore Smith</name>
<affiliation><nlm:aff id="A9">Department of Ophthalmology, Columbia University, New York, NY, 10032</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Barile, Gaetano R" sort="Barile, Gaetano R" uniqKey="Barile G" first="Gaetano R." last="Barile">Gaetano R. Barile</name>
<affiliation><nlm:aff id="A9">Department of Ophthalmology, Columbia University, New York, NY, 10032</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hogg, Ruth E" sort="Hogg, Ruth E" uniqKey="Hogg R" first="Ruth E." last="Hogg">Ruth E. Hogg</name>
<affiliation><nlm:aff id="A16">Center for Vision and Vascular Science,The Queen’s University, Belfast, Northern Ireland.</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Chakravarthy, Usha" sort="Chakravarthy, Usha" uniqKey="Chakravarthy U" first="Usha" last="Chakravarthy">Usha Chakravarthy</name>
<affiliation><nlm:aff id="A16">Center for Vision and Vascular Science,The Queen’s University, Belfast, Northern Ireland.</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Behrens, Timothy W" sort="Behrens, Timothy W" uniqKey="Behrens T" first="Timothy W." last="Behrens">Timothy W. Behrens</name>
<affiliation><nlm:aff id="A17">ITGR Human Genetics Group, Genentech Inc, South San Francisco, CA 94080</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="André G." last="Uitterlinden">André G. Uitterlinden</name>
<affiliation><nlm:aff id="A18">Department Epidemiology, Department Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M." last="Van Duijn">Cornelia M. Van Duijn</name>
<affiliation><nlm:aff id="A19">Department Epidemiology, Erasmus Medical Center Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vingerling, Johannes R" sort="Vingerling, Johannes R" uniqKey="Vingerling J" first="Johannes R." last="Vingerling">Johannes R. Vingerling</name>
<affiliation><nlm:aff id="A8">Department Ophthalmology, Department Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brantley, Milam A" sort="Brantley, Milam A" uniqKey="Brantley M" first="Milam A." last="Brantley">Milam A. Brantley</name>
<affiliation><nlm:aff id="A12">Ophthalmology & Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA and Barnes Retina Institute, St. Louis, MO 63144</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Baird, Paul N" sort="Baird, Paul N" uniqKey="Baird P" first="Paul N." last="Baird">Paul N. Baird</name>
<affiliation><nlm:aff id="A10">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Klaver, Caroline C W" sort="Klaver, Caroline C W" uniqKey="Klaver C" first="Caroline C. W." last="Klaver">Caroline C. W. Klaver</name>
<affiliation><nlm:aff id="A8">Department Ophthalmology, Department Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Allikmets, Rando" sort="Allikmets, Rando" uniqKey="Allikmets R" first="Rando" last="Allikmets">Rando Allikmets</name>
<affiliation><nlm:aff id="A9">Department of Ophthalmology, Columbia University, New York, NY, 10032</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A20">Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Katsanis, Nicholas" sort="Katsanis, Nicholas" uniqKey="Katsanis N" first="Nicholas" last="Katsanis">Nicholas Katsanis</name>
<affiliation><nlm:aff id="A5">Center for Human Disease Modeling and Departments of Cell Biology and Pediatrics, Duke University, Durham, NC 27710</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Graham, Robert R" sort="Graham, Robert R" uniqKey="Graham R" first="Robert R." last="Graham">Robert R. Graham</name>
<affiliation><nlm:aff id="A17">ITGR Human Genetics Group, Genentech Inc, South San Francisco, CA 94080</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John P. A." last="Ioannidis">John P. A. Ioannidis</name>
<affiliation><nlm:aff id="A21">Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina 45110, Greece</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A22">Stanford Prevention Research Center, Department of Medicine, and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA 94305, USA;</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A23">Center for Genetic Epidemiology and Modeling, ICRHPS, and Tufts Clinical and Translational Science Institute, Tufts Medical Center, Tufts University School of Medicine, Boston, MA 02111, USA;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J." last="Daly">Mark J. Daly</name>
<affiliation><nlm:aff id="A2">Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114 and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Seddon, Johanna M" sort="Seddon, Johanna M" uniqKey="Seddon J" first="Johanna M." last="Seddon">Johanna M. Seddon</name>
<affiliation><nlm:aff id="A3">Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 Washington St. #450, Boston, MA 02111</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A24">Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts 02111, USA</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">Ophthalmology</title>
<idno type="ISSN">0161-6420</idno>
<idno type="eISSN">1549-4713</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Purpose</title>
<p id="P1">To investigate whether the two subtypes of advanced age-related macular degeneration (AMD), choroidal neovascularization (CNV) and geographic atrophy (GA), segregate separately in families and to identify which genetic variants are associated with these two subtypes.</p>
</sec>
<sec id="S2"><title>Design</title>
<p id="P2">Sibling correlation study and genome-wide association study (GWAS)</p>
</sec>
<sec id="S3"><title>Participants</title>
<p id="P3">For the sibling correlation study, we included 209 sibling pairs with advanced AMD. For the GWAS, we included 2594 participants with advanced AMD subtypes and 4134 controls. Replication cohorts included 5383 advanced AMD participants and 15,240 controls.</p>
</sec>
<sec id="S4"><title>Methods</title>
<p id="P4">Participants had AMD grade assigned based on fundus photography and/or examination. To determine heritability of advanced AMD subtypes, we performed a sibling correlation study. For the GWAS, we conducted genome-wide genotyping and imputed 6,036,699 single nucleotide polymorphism (SNPs). We then analyzed SNPs with a generalized linear model controlling for genotyping platform and genetic ancestry. The most significant associations were evaluated in independent cohorts.</p>
</sec>
<sec id="S5"><title>Main Outcome Measures</title>
<p id="P5">Concordance of advanced AMD subtypes in sibling pairs and associations between SNPs with GA and CNV advanced AMD subtypes.</p>
</sec>
<sec id="S6"><title>Results</title>
<p id="P6">The difference between the observed and expected proportion of siblings concordant for the same subtype of advanced AMD was different to a statistically significant degree (P=4.2 x 10<sup>−5</sup>
) meaning that siblings of probands with CNV or GA are more likely to develop CNV or GA, respectively. In the analysis comparing participants with CNV to those with GA, we observed a statistically significant association at the <italic>ARMS2/HTRA1</italic>
 locus [rs10490924, odds ratio (OR)=1.47, P=4.3 ×10<sup>−9</sup>
] which was confirmed in the replication samples (OR=1.38, P=7.4 x 10<sup>−14</sup>
 for combined discovery and replication analysis).</p>
</sec>
<sec id="S7"><title>Conclusions</title>
<p id="P7">Whether a patient with AMD develops CNV vs. GA is determined in part by genetic variation. In this large GWAS meta-analysis and replication analysis, the <italic>ARMS2/HTRA1</italic>
 locus confers increased risk for both advanced AMD subtypes but imparts greater risk for CNV than for GA. This locus explains a small proportion of the excess sibling correlation for advanced AMD subtype. Other loci were detected with suggestive associations which differ for advanced AMD subtypes and deserve follow-up in additional studies.</p>
</sec>
</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>
  <pmc-dir>properties manuscript</pmc-dir>
  <front><journal-meta><journal-id journal-id-type="nlm-journal-id">7802443</journal-id>
<journal-id journal-id-type="pubmed-jr-id">6266</journal-id>
<journal-id journal-id-type="nlm-ta">Ophthalmology</journal-id>
<journal-id journal-id-type="iso-abbrev">Ophthalmology</journal-id>
<journal-title-group><journal-title>Ophthalmology</journal-title>
</journal-title-group>
<issn pub-type="ppub">0161-6420</issn>
<issn pub-type="epub">1549-4713</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22705344</article-id>
<article-id pub-id-type="pmc">3899891</article-id>
<article-id pub-id-type="doi">10.1016/j.ophtha.2012.03.014</article-id>
<article-id pub-id-type="manuscript">NIHMS364375</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Heritability and Genome-wide Association Study To Assess Genetic Differences Between Advanced Age-Related Macular Degeneration Subtypes
</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Sobrin</surname>
<given-names>Lucia</given-names>
</name>
<degrees>MD, MPH</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ripke</surname>
<given-names>Stephan</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Yu</surname>
<given-names>Yi</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Fagerness</surname>
<given-names>Jesen</given-names>
</name>
<degrees>JD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bhangale</surname>
<given-names>Tushar R.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tan</surname>
<given-names>Perciliz L.</given-names>
</name>
<degrees>BSc</degrees>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Souied</surname>
<given-names>Eric H.</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A6">6</xref>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Buitendijk</surname>
<given-names>Gabriëlle H.S.</given-names>
</name>
<degrees>MD, MSc</degrees>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Merriam</surname>
<given-names>Joanna E.</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Richardson</surname>
<given-names>Andrea J.</given-names>
</name>
<degrees>BSc</degrees>
<xref ref-type="aff" rid="A10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Raychaudhuri</surname>
<given-names>Soumya</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Reynolds</surname>
<given-names>Robyn</given-names>
</name>
<degrees>MPH</degrees>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Chin</surname>
<given-names>Kimberly A.</given-names>
</name>
<degrees>BA</degrees>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lee</surname>
<given-names>Aaron Y.</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Leveziel</surname>
<given-names>Nicolas</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A6">6</xref>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zack</surname>
<given-names>Donald J.</given-names>
</name>
<degrees>MD. PhD</degrees>
<xref ref-type="aff" rid="A13">13</xref>
<xref ref-type="aff" rid="A14">14</xref>
<xref ref-type="aff" rid="A15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Campochiaro</surname>
<given-names>Peter</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A13">13</xref>
<xref ref-type="aff" rid="A14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Smith</surname>
<given-names>R. Theodore</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Barile</surname>
<given-names>Gaetano R.</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hogg</surname>
<given-names>Ruth E.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Chakravarthy</surname>
<given-names>Usha</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Behrens</surname>
<given-names>Timothy W.</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A17">17</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Uitterlinden</surname>
<given-names>André G.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>van Duijn</surname>
<given-names>Cornelia M.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vingerling</surname>
<given-names>Johannes R.</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brantley</surname>
<given-names>Milam A.</given-names>
<suffix>Jr</suffix>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Baird</surname>
<given-names>Paul N.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Klaver</surname>
<given-names>Caroline C.W.</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Allikmets</surname>
<given-names>Rando</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A9">9</xref>
<xref ref-type="aff" rid="A20">20</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Katsanis</surname>
<given-names>Nicholas</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Graham</surname>
<given-names>Robert R.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A17">17</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ioannidis</surname>
<given-names>John P.A.</given-names>
</name>
<degrees>MD, DSc</degrees>
<xref ref-type="aff" rid="A21">21</xref>
<xref ref-type="aff" rid="A22">22</xref>
<xref ref-type="aff" rid="A23">23</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Daly</surname>
<given-names>Mark J.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Seddon</surname>
<given-names>Johanna M.</given-names>
</name>
<degrees>MD, ScM</degrees>
<xref ref-type="aff" rid="A3">3</xref>
<xref ref-type="aff" rid="A24">24</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Harvard Medical School, Boston, Massachusetts 02114</aff>
<aff id="A2"><label>2</label>
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114 and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142</aff>
<aff id="A3"><label>3</label>
Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 Washington St. #450, Boston, MA 02111</aff>
<aff id="A4"><label>4</label>
Department of Bioinformatics and Computational Biology, Genentech Inc, South San Francisco, CA 94080</aff>
<aff id="A5"><label>5</label>
Center for Human Disease Modeling and Departments of Cell Biology and Pediatrics, Duke University, Durham, NC 27710</aff>
<aff id="A6"><label>6</label>
Department of Ophthalmology, University Paris Est Creteil, Hopital Intercommunal de Creteil, Creteil, 94000, France</aff>
<aff id="A7"><label>7</label>
Faculté de Médecine Henri Mondor, Department of ophthalmology. UPEC, Créteil, France</aff>
<aff id="A8"><label>8</label>
Department Ophthalmology, Department Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands</aff>
<aff id="A9"><label>9</label>
Department of Ophthalmology, Columbia University, New York, NY, 10032</aff>
<aff id="A10"><label>10</label>
Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia</aff>
<aff id="A11"><label>11</label>
Divisions of Genetics and Rheumatology, Brigham and Women’s Hospital, Boston, MA 02115</aff>
<aff id="A12"><label>12</label>
Ophthalmology & Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA and Barnes Retina Institute, St. Louis, MO 63144</aff>
<aff id="A13"><label>13</label>
McKusick-Nathans Institute of Genetic Medicine, Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205</aff>
<aff id="A14"><label>14</label>
Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205</aff>
<aff id="A15"><label>15</label>
Department of Molecular Biology and Genetics and Institut de la Vision, UPMC, Paris, France</aff>
<aff id="A16"><label>16</label>
Center for Vision and Vascular Science,The Queen’s University, Belfast, Northern Ireland.</aff>
<aff id="A17"><label>17</label>
ITGR Human Genetics Group, Genentech Inc, South San Francisco, CA 94080</aff>
<aff id="A18"><label>18</label>
Department Epidemiology, Department Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands</aff>
<aff id="A19"><label>19</label>
Department Epidemiology, Erasmus Medical Center Rotterdam, the Netherlands</aff>
<aff id="A20"><label>20</label>
Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA</aff>
<aff id="A21"><label>21</label>
Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina 45110, Greece</aff>
<aff id="A22"><label>22</label>
Stanford Prevention Research Center, Department of Medicine, and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA 94305, USA;</aff>
<aff id="A23"><label>23</label>
Center for Genetic Epidemiology and Modeling, ICRHPS, and Tufts Clinical and Translational Science Institute, Tufts Medical Center, Tufts University School of Medicine, Boston, MA 02111, USA;</aff>
<aff id="A24"><label>24</label>
Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts 02111, USA</aff>
<author-notes><corresp id="cor1">Address for reprints: Johanna M. Seddon, MD, ScM, Ophthalmic Epidemiology and Genetics Service, Department of Ophthalmology, Tufts Medical Center, 800 Washington St. #450, Boston, MA 02111, <email>jseddon@tuftsmedicalcenter.org</email>
, Tel. 617-636-9000, Fax.617-636-5844</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>25</day>
<month>9</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="epub"><day>15</day>
<month>6</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="ppub"><month>9</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>23</day>
<month>1</month>
<year>2014</year>
</pub-date>
<volume>119</volume>
<issue>9</issue>
<fpage>1874</fpage>
<lpage>1885</lpage>
<pmc-comment>elocation-id from pubmed: 10.1016/j.ophtha.2012.03.014</pmc-comment>
      <abstract><sec id="S1"><title>Purpose</title>
<p id="P1">To investigate whether the two subtypes of advanced age-related macular degeneration (AMD), choroidal neovascularization (CNV) and geographic atrophy (GA), segregate separately in families and to identify which genetic variants are associated with these two subtypes.</p>
</sec>
<sec id="S2"><title>Design</title>
<p id="P2">Sibling correlation study and genome-wide association study (GWAS)</p>
</sec>
<sec id="S3"><title>Participants</title>
<p id="P3">For the sibling correlation study, we included 209 sibling pairs with advanced AMD. For the GWAS, we included 2594 participants with advanced AMD subtypes and 4134 controls. Replication cohorts included 5383 advanced AMD participants and 15,240 controls.</p>
</sec>
<sec id="S4"><title>Methods</title>
<p id="P4">Participants had AMD grade assigned based on fundus photography and/or examination. To determine heritability of advanced AMD subtypes, we performed a sibling correlation study. For the GWAS, we conducted genome-wide genotyping and imputed 6,036,699 single nucleotide polymorphism (SNPs). We then analyzed SNPs with a generalized linear model controlling for genotyping platform and genetic ancestry. The most significant associations were evaluated in independent cohorts.</p>
</sec>
<sec id="S5"><title>Main Outcome Measures</title>
<p id="P5">Concordance of advanced AMD subtypes in sibling pairs and associations between SNPs with GA and CNV advanced AMD subtypes.</p>
</sec>
<sec id="S6"><title>Results</title>
<p id="P6">The difference between the observed and expected proportion of siblings concordant for the same subtype of advanced AMD was different to a statistically significant degree (P=4.2 x 10<sup>−5</sup>
) meaning that siblings of probands with CNV or GA are more likely to develop CNV or GA, respectively. In the analysis comparing participants with CNV to those with GA, we observed a statistically significant association at the <italic>ARMS2/HTRA1</italic>
 locus [rs10490924, odds ratio (OR)=1.47, P=4.3 ×10<sup>−9</sup>
] which was confirmed in the replication samples (OR=1.38, P=7.4 x 10<sup>−14</sup>
 for combined discovery and replication analysis).</p>
</sec>
<sec id="S7"><title>Conclusions</title>
<p id="P7">Whether a patient with AMD develops CNV vs. GA is determined in part by genetic variation. In this large GWAS meta-analysis and replication analysis, the <italic>ARMS2/HTRA1</italic>
 locus confers increased risk for both advanced AMD subtypes but imparts greater risk for CNV than for GA. This locus explains a small proportion of the excess sibling correlation for advanced AMD subtype. Other loci were detected with suggestive associations which differ for advanced AMD subtypes and deserve follow-up in additional studies.</p>
</sec>
</abstract>
<funding-group><award-group><funding-source country="United States">National Eye Institute : NEI</funding-source>
<award-id>R01 EY011309 || EY</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
</record>

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