Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration
Identifieur interne : 006201 ( Main/Exploration ); précédent : 006200; suivant : 006202Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration
Auteurs : Yi Yu ; Tushar R. Bhangale ; Jesen Fagerness [États-Unis] ; Stephan Ripke [États-Unis] ; Gudmar Thorleifsson [Islande] ; Perciliz L. Tan [États-Unis] ; Eric H. Souied [France] ; Andrea J. Richardson [Australie] ; Joanna E. Merriam [États-Unis] ; Gabriëlle H. S. Buitendijk ; Robyn Reynolds ; Soumya Raychaudhuri [États-Unis] ; Kimberly A. Chin ; Lucia Sobrin [États-Unis] ; Evangelos Evangelou [Grèce] ; Phil H. Lee [États-Unis] ; Aaron Y. Lee [États-Unis] ; Nicolas Leveziel [France] ; Donald J. Zack [États-Unis, France] ; Betsy Campochiaro [États-Unis] ; Peter Campochiaro ; R. Theodore Smith [États-Unis] ; Gaetano R. Barile [États-Unis] ; Robyn H. Guymer [Australie] ; Ruth Hogg [Royaume-Uni] ; Usha Chakravarthy [Royaume-Uni] ; Luba D. Robman [Australie] ; Omar Gustafsson [Islande] ; Haraldur Sigurdsson [Islande] ; Ward Ortmann [États-Unis] ; Timothy W. Behrens [États-Unis] ; Kari Stefansson [Islande] ; André G. Uitterlinden [Pays-Bas] ; Cornelia M. Van Duijn ; Johannes R. Vingerling ; Caroline C. W. Klaver ; Rando Allikmets [États-Unis] ; Milam A. Brantley [États-Unis] ; Paul N. Baird [Australie] ; Nicholas Katsanis [États-Unis] ; Unnur Thorsteinsdottir [Islande] ; John P. A. Ioannidis [États-Unis, Grèce] ; Mark J. Daly [États-Unis] ; Robert R. Graham [États-Unis] ; Johanna M. Seddon [États-Unis]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2011.
Abstract
Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date for advanced AMD. We imputed 6 036 699 single-nucleotide polymorphisms with the 1000 Genomes Project reference genotypes on 2594 cases and 4134 controls with follow-up replication of top signals in 5640 cases and 52 174 controls. We identified two new common susceptibility alleles, rs1999930 on 6q21-q22.3 near
Url:
DOI: 10.1093/hmg/ddr270
PubMed: 21665990
PubMed Central: 3159552
Affiliations:
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Le document en format XML
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and <italic>VEGFA</italic>
are associated with advanced age-related macular degeneration</title>
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<affiliation wicri:level="1"><nlm:aff id="af15"><addr-line>Department of Ophthalmology, Faculté de Médecine Henri Mondor</addr-line>
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<author><name sortKey="Richardson, Andrea J" sort="Richardson, Andrea J" uniqKey="Richardson A" first="Andrea J." last="Richardson">Andrea J. Richardson</name>
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<author><name sortKey="Merriam, Joanna E" sort="Merriam, Joanna E" uniqKey="Merriam J" first="Joanna E." last="Merriam">Joanna E. Merriam</name>
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<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>
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<author><name sortKey="Reynolds, Robyn" sort="Reynolds, Robyn" uniqKey="Reynolds R" first="Robyn" last="Reynolds">Robyn Reynolds</name>
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<author><name sortKey="Chin, Kimberly A" sort="Chin, Kimberly A" uniqKey="Chin K" first="Kimberly A." last="Chin">Kimberly A. Chin</name>
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<author><name sortKey="Sobrin, Lucia" sort="Sobrin, Lucia" uniqKey="Sobrin L" first="Lucia" last="Sobrin">Lucia Sobrin</name>
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<author><name sortKey="Evangelou, Evangelos" sort="Evangelou, Evangelos" uniqKey="Evangelou E" first="Evangelos" last="Evangelou">Evangelos Evangelou</name>
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<country xml:lang="fr">Grèce</country>
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<author><name sortKey="Lee, Phil H" sort="Lee, Phil H" uniqKey="Lee P" first="Phil H." last="Lee">Phil H. Lee</name>
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<author><name sortKey="Lee, Aaron Y" sort="Lee, Aaron Y" uniqKey="Lee A" first="Aaron Y." last="Lee">Aaron Y. Lee</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Leveziel, Nicolas" sort="Leveziel, Nicolas" uniqKey="Leveziel N" first="Nicolas" last="Leveziel">Nicolas Leveziel</name>
<affiliation wicri:level="1"><nlm:aff id="af14"><addr-line>Department of Ophthalmology</addr-line>
,<institution>University Paris Est Creteil, Hopital Intercommunal de Creteil</institution>
,<addr-line>Creteil, 94000</addr-line>
,<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af15"><addr-line>Department of Ophthalmology, Faculté de Médecine Henri Mondor</addr-line>
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,<addr-line>Créteil</addr-line>
,<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="af27"><addr-line>Department of Ophthalmology</addr-line>
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</affiliation>
<affiliation><nlm:aff id="af28"><addr-line>Department of Neuroscience</addr-line>
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</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af29"><addr-line>Department of</addr-line>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="af37"><addr-line>Institut de la Vision</addr-line>
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</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Campochiaro, Betsy" sort="Campochiaro, Betsy" uniqKey="Campochiaro B" first="Betsy" last="Campochiaro">Betsy Campochiaro</name>
<affiliation><nlm:aff id="af27"><addr-line>Department of Ophthalmology</addr-line>
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</affiliation>
<affiliation><nlm:aff id="af28"><addr-line>Department of Neuroscience</addr-line>
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</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af29"><addr-line>Department of</addr-line>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Campochiaro, Peter" sort="Campochiaro, Peter" uniqKey="Campochiaro P" first="Peter" last="Campochiaro">Peter Campochiaro</name>
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</affiliation>
<affiliation><nlm:aff id="af28"><addr-line>Department of Neuroscience</addr-line>
,</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>
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,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Barile, Gaetano R" sort="Barile, Gaetano R" uniqKey="Barile G" first="Gaetano R." last="Barile">Gaetano R. Barile</name>
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,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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</author>
<author><name sortKey="Guymer, Robyn H" sort="Guymer, Robyn H" uniqKey="Guymer R" first="Robyn H." last="Guymer">Robyn H. Guymer</name>
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<author><name sortKey="Hogg, Ruth" sort="Hogg, Ruth" uniqKey="Hogg R" first="Ruth" last="Hogg">Ruth Hogg</name>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Chakravarthy, Usha" sort="Chakravarthy, Usha" uniqKey="Chakravarthy U" first="Usha" last="Chakravarthy">Usha Chakravarthy</name>
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,<addr-line>Belfast</addr-line>
,<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Robman, Luba D" sort="Robman, Luba D" uniqKey="Robman L" first="Luba D." last="Robman">Luba D. Robman</name>
<affiliation wicri:level="1"><nlm:aff id="af16"><institution>Centre for Eye Research Australia</institution>
,<institution>Royal Victorian Eye and Ear Hospital, University of Melbourne</institution>
,<addr-line>East Melbourne, Victoria</addr-line>
,<country>Australia</country>
,</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gustafsson, Omar" sort="Gustafsson, Omar" uniqKey="Gustafsson O" first="Omar" last="Gustafsson">Omar Gustafsson</name>
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,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sigurdsson, Haraldur" sort="Sigurdsson, Haraldur" uniqKey="Sigurdsson H" first="Haraldur" last="Sigurdsson">Haraldur Sigurdsson</name>
<affiliation wicri:level="1"><nlm:aff id="af32"><addr-line>Department of Ophthalmology</addr-line>
,<institution>National University Hospital</institution>
,<addr-line>101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af33"><addr-line>Faculty of Medicine</addr-line>
,<institution>University of Iceland</institution>
,<addr-line>101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ortmann, Ward" sort="Ortmann, Ward" uniqKey="Ortmann W" first="Ward" last="Ortmann">Ward Ortmann</name>
<affiliation wicri:level="1"><nlm:aff id="af7"><addr-line>Immunology and Tissue Growth and Repair Department, Human Genetics Group</addr-line>
,<institution>Genentech, Inc.</institution>
,<addr-line>South San Francisco, CA 94080</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af7"><addr-line>Immunology and Tissue Growth and Repair Department, Human Genetics Group</addr-line>
,<institution>Genentech, Inc.</institution>
,<addr-line>South San Francisco, CA 94080</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stefansson, Kari" sort="Stefansson, Kari" uniqKey="Stefansson K" first="Kari" last="Stefansson">Kari Stefansson</name>
<affiliation wicri:level="1"><nlm:aff id="af10"><addr-line>deCODE genetics, 101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af33"><addr-line>Faculty of Medicine</addr-line>
,<institution>University of Iceland</institution>
,<addr-line>101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af20"><addr-line>Department of Internal Medicine</addr-line>
,<institution>Erasmus Medical Center</institution>
,<addr-line>Rotterdam</addr-line>
,<country>The Netherlands</country>
,</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:cut=" and" id="af19"><addr-line>Department of Epidemiology</addr-line>
</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="af18"><addr-line>Department of Ophthalmology</addr-line>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af19"><addr-line>Department of Epidemiology</addr-line>
</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="af18"><addr-line>Department of Ophthalmology</addr-line>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af19"><addr-line>Department of Epidemiology</addr-line>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Allikmets, Rando" sort="Allikmets, Rando" uniqKey="Allikmets R" first="Rando" last="Allikmets">Rando Allikmets</name>
<affiliation wicri:level="1"><nlm:aff id="af17"><addr-line>Department of Ophthalmology</addr-line>
,<institution>Columbia University</institution>
,<addr-line>New York, NY 10032</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af34"><addr-line>Department of Pathology and Cell Biology</addr-line>
,<institution>Columbia University</institution>
,<addr-line>New York, NY 10032</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af25"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>
,<institution>Washington University School of Medicine</institution>
,<addr-line>St Louis, MO 63110</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af26"><institution>Barnes Retina Institute</institution>
,<addr-line>St Louis, MO 63144</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af16"><institution>Centre for Eye Research Australia</institution>
,<institution>Royal Victorian Eye and Ear Hospital, University of Melbourne</institution>
,<addr-line>East Melbourne, Victoria</addr-line>
,<country>Australia</country>
,</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Katsanis, Nicholas" sort="Katsanis, Nicholas" uniqKey="Katsanis N" first="Nicholas" last="Katsanis">Nicholas Katsanis</name>
<affiliation><nlm:aff id="af11"><institution>Center for Human Disease Modeling</institution>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af12"><addr-line>Department of Cell Biology</addr-line>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af13"><addr-line>Department of Pediatrics</addr-line>
,<institution>Duke University</institution>
,<addr-line>Durham, NC 27710</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Thorsteinsdottir, Unnur" sort="Thorsteinsdottir, Unnur" uniqKey="Thorsteinsdottir U" first="Unnur" last="Thorsteinsdottir">Unnur Thorsteinsdottir</name>
<affiliation wicri:level="1"><nlm:aff id="af10"><addr-line>deCODE genetics, 101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af33"><addr-line>Faculty of Medicine</addr-line>
,<institution>University of Iceland</institution>
,<addr-line>101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="af2"><institution>Center for Genetic Epidemiology and Modeling</institution>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="af3"><institution>Institute for Clinical Research and Health Policy Studies</institution>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af4"><institution>Tufts Clinical and Translational Science Institute</institution>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Ophthalmology</addr-line>
,<institution>Tufts Medical Center, Tufts University School of Medicine</institution>
,<addr-line>800 Washington Street, No. 450, Boston, MA 02111</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af24"><addr-line>Department of Hygiene and Epidemiology</addr-line>
,<institution>University of Ioannina School of Medicine</institution>
,<addr-line>Ioannina 45110</addr-line>
,<country>Greece</country>
,</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af35"><addr-line>Department of Medicine</addr-line>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff wicri:cut=" and" id="af36"><addr-line>Department of Health Research and Policy</addr-line>
,<institution>Stanford Prevention Research Center, Stanford University School of Medicine</institution>
,<addr-line>Stanford, CA 94305</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af8"><institution>Center for Human Genetic Research, Massachusetts General Hospital</institution>
,<addr-line>185 Cambridge Street, Sixth Floor, Boston, MA 02114</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af9"><institution>Program in Medical and Population Genetics, Broad Institute of Harvard and MIT</institution>
,<addr-line>7 Main Street, Cambridge, MA 02142</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af7"><addr-line>Immunology and Tissue Growth and Repair Department, Human Genetics Group</addr-line>
,<institution>Genentech, Inc.</institution>
,<addr-line>South San Francisco, CA 94080</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="af1"><addr-line>Ophthalmic Epidemiology and Genetics Service</addr-line>
,<institution>New England Eye Center</institution>
,</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Ophthalmology</addr-line>
,<institution>Tufts Medical Center, Tufts University School of Medicine</institution>
,<addr-line>800 Washington Street, No. 450, Boston, MA 02111</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">21665990</idno>
<idno type="pmc">3159552</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159552</idno>
<idno type="RBID">PMC:3159552</idno>
<idno type="doi">10.1093/hmg/ddr270</idno>
<date when="2011">2011</date>
<idno type="wicri:Area/Pmc/Corpus">002580</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002580</idno>
<idno type="wicri:Area/Pmc/Curation">002430</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002430</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002370</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002370</idno>
<idno type="wicri:Area/Ncbi/Merge">000A89</idno>
<idno type="wicri:Area/Ncbi/Curation">000A89</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000A89</idno>
<idno type="wicri:doubleKey">0964-6906:2011:Yu Y:common:variants:near</idno>
<idno type="wicri:Area/Main/Merge">006565</idno>
<idno type="wicri:Area/Main/Curation">006201</idno>
<idno type="wicri:Area/Main/Exploration">006201</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Common variants near <italic>FRK/COL10A1</italic>
and <italic>VEGFA</italic>
are associated with advanced age-related macular degeneration</title>
<author><name sortKey="Yu, Yi" sort="Yu, Yi" uniqKey="Yu Y" first="Yi" last="Yu">Yi Yu</name>
<affiliation><nlm:aff id="af1"><addr-line>Ophthalmic Epidemiology and Genetics Service</addr-line>
,<institution>New England Eye Center</institution>
,</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 wicri:cut=" and" id="af6"><addr-line>Department of Bioinformatics and Computational Biology</addr-line>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Fagerness, Jesen" sort="Fagerness, Jesen" uniqKey="Fagerness J" first="Jesen" last="Fagerness">Jesen Fagerness</name>
<affiliation wicri:level="1"><nlm:aff id="af8"><institution>Center for Human Genetic Research, Massachusetts General Hospital</institution>
,<addr-line>185 Cambridge Street, Sixth Floor, Boston, MA 02114</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af9"><institution>Program in Medical and Population Genetics, Broad Institute of Harvard and MIT</institution>
,<addr-line>7 Main Street, Cambridge, MA 02142</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ripke, Stephan" sort="Ripke, Stephan" uniqKey="Ripke S" first="Stephan" last="Ripke">Stephan Ripke</name>
<affiliation wicri:level="1"><nlm:aff id="af8"><institution>Center for Human Genetic Research, Massachusetts General Hospital</institution>
,<addr-line>185 Cambridge Street, Sixth Floor, Boston, MA 02114</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af9"><institution>Program in Medical and Population Genetics, Broad Institute of Harvard and MIT</institution>
,<addr-line>7 Main Street, Cambridge, MA 02142</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Thorleifsson, Gudmar" sort="Thorleifsson, Gudmar" uniqKey="Thorleifsson G" first="Gudmar" last="Thorleifsson">Gudmar Thorleifsson</name>
<affiliation wicri:level="1"><nlm:aff id="af10"><addr-line>deCODE genetics, 101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="af11"><institution>Center for Human Disease Modeling</institution>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af12"><addr-line>Department of Cell Biology</addr-line>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af13"><addr-line>Department of Pediatrics</addr-line>
,<institution>Duke University</institution>
,<addr-line>Durham, NC 27710</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af14"><addr-line>Department of Ophthalmology</addr-line>
,<institution>University Paris Est Creteil, Hopital Intercommunal de Creteil</institution>
,<addr-line>Creteil, 94000</addr-line>
,<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af15"><addr-line>Department of Ophthalmology, Faculté de Médecine Henri Mondor</addr-line>
,<institution>UPEC</institution>
,<addr-line>Créteil</addr-line>
,<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af16"><institution>Centre for Eye Research Australia</institution>
,<institution>Royal Victorian Eye and Ear Hospital, University of Melbourne</institution>
,<addr-line>East Melbourne, Victoria</addr-line>
,<country>Australia</country>
,</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af17"><addr-line>Department of Ophthalmology</addr-line>
,<institution>Columbia University</institution>
,<addr-line>New York, NY 10032</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="af18"><addr-line>Department of Ophthalmology</addr-line>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af19"><addr-line>Department of Epidemiology</addr-line>
</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="af1"><addr-line>Ophthalmic Epidemiology and Genetics Service</addr-line>
,<institution>New England Eye Center</institution>
,</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Raychaudhuri, Soumya" sort="Raychaudhuri, Soumya" uniqKey="Raychaudhuri S" first="Soumya" last="Raychaudhuri">Soumya Raychaudhuri</name>
<affiliation wicri:level="1"><nlm:aff id="af8"><institution>Center for Human Genetic Research, Massachusetts General Hospital</institution>
,<addr-line>185 Cambridge Street, Sixth Floor, Boston, MA 02114</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af9"><institution>Program in Medical and Population Genetics, Broad Institute of Harvard and MIT</institution>
,<addr-line>7 Main Street, Cambridge, MA 02142</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af21"><addr-line>Division of Genetics</addr-line>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff wicri:cut=" and" id="af22"><addr-line>Division of Rheumatology</addr-line>
,<institution>Brigham and Women's Hospital</institution>
,<addr-line>Boston, MA 02115</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="af1"><addr-line>Ophthalmic Epidemiology and Genetics Service</addr-line>
,<institution>New England Eye Center</institution>
,</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sobrin, Lucia" sort="Sobrin, Lucia" uniqKey="Sobrin L" first="Lucia" last="Sobrin">Lucia Sobrin</name>
<affiliation wicri:level="1"><nlm:aff id="af23"><addr-line>Department of Ophthalmology</addr-line>
,<institution>Massachusetts Eye and Ear Infirmary, Harvard Medical School</institution>
,<addr-line>Boston, MA 02114</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Evangelou, Evangelos" sort="Evangelou, Evangelos" uniqKey="Evangelou E" first="Evangelos" last="Evangelou">Evangelos Evangelou</name>
<affiliation wicri:level="1"><nlm:aff id="af24"><addr-line>Department of Hygiene and Epidemiology</addr-line>
,<institution>University of Ioannina School of Medicine</institution>
,<addr-line>Ioannina 45110</addr-line>
,<country>Greece</country>
,</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lee, Phil H" sort="Lee, Phil H" uniqKey="Lee P" first="Phil H." last="Lee">Phil H. Lee</name>
<affiliation wicri:level="1"><nlm:aff id="af8"><institution>Center for Human Genetic Research, Massachusetts General Hospital</institution>
,<addr-line>185 Cambridge Street, Sixth Floor, Boston, MA 02114</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af9"><institution>Program in Medical and Population Genetics, Broad Institute of Harvard and MIT</institution>
,<addr-line>7 Main Street, Cambridge, MA 02142</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af25"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>
,<institution>Washington University School of Medicine</institution>
,<addr-line>St Louis, MO 63110</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af26"><institution>Barnes Retina Institute</institution>
,<addr-line>St Louis, MO 63144</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Leveziel, Nicolas" sort="Leveziel, Nicolas" uniqKey="Leveziel N" first="Nicolas" last="Leveziel">Nicolas Leveziel</name>
<affiliation wicri:level="1"><nlm:aff id="af14"><addr-line>Department of Ophthalmology</addr-line>
,<institution>University Paris Est Creteil, Hopital Intercommunal de Creteil</institution>
,<addr-line>Creteil, 94000</addr-line>
,<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af15"><addr-line>Department of Ophthalmology, Faculté de Médecine Henri Mondor</addr-line>
,<institution>UPEC</institution>
,<addr-line>Créteil</addr-line>
,<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="af27"><addr-line>Department of Ophthalmology</addr-line>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="af28"><addr-line>Department of Neuroscience</addr-line>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af29"><addr-line>Department of</addr-line>
<institution>Molecular Biology and Genetics</institution>
,<addr-line>Wilmer Eye Institute</addr-line>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af30"><institution>McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine</institution>
,<addr-line>Baltimore, MD 21287</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af37"><addr-line>Institut de la Vision</addr-line>
,<institution>UPMC</institution>
,<addr-line>Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Campochiaro, Betsy" sort="Campochiaro, Betsy" uniqKey="Campochiaro B" first="Betsy" last="Campochiaro">Betsy Campochiaro</name>
<affiliation><nlm:aff id="af27"><addr-line>Department of Ophthalmology</addr-line>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="af28"><addr-line>Department of Neuroscience</addr-line>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af29"><addr-line>Department of</addr-line>
<institution>Molecular Biology and Genetics</institution>
,<addr-line>Wilmer Eye Institute</addr-line>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af30"><institution>McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine</institution>
,<addr-line>Baltimore, MD 21287</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Campochiaro, Peter" sort="Campochiaro, Peter" uniqKey="Campochiaro P" first="Peter" last="Campochiaro">Peter Campochiaro</name>
<affiliation><nlm:aff id="af27"><addr-line>Department of Ophthalmology</addr-line>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="af28"><addr-line>Department of Neuroscience</addr-line>
,</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 wicri:level="1"><nlm:aff id="af17"><addr-line>Department of Ophthalmology</addr-line>
,<institution>Columbia University</institution>
,<addr-line>New York, NY 10032</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af17"><addr-line>Department of Ophthalmology</addr-line>
,<institution>Columbia University</institution>
,<addr-line>New York, NY 10032</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Guymer, Robyn H" sort="Guymer, Robyn H" uniqKey="Guymer R" first="Robyn H." last="Guymer">Robyn H. Guymer</name>
<affiliation wicri:level="1"><nlm:aff id="af16"><institution>Centre for Eye Research Australia</institution>
,<institution>Royal Victorian Eye and Ear Hospital, University of Melbourne</institution>
,<addr-line>East Melbourne, Victoria</addr-line>
,<country>Australia</country>
,</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hogg, Ruth" sort="Hogg, Ruth" uniqKey="Hogg R" first="Ruth" last="Hogg">Ruth Hogg</name>
<affiliation wicri:level="1"><nlm:aff id="af31"><institution>Center for Vision and Vascular Science, The Queen's University</institution>
,<addr-line>Belfast</addr-line>
,<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Chakravarthy, Usha" sort="Chakravarthy, Usha" uniqKey="Chakravarthy U" first="Usha" last="Chakravarthy">Usha Chakravarthy</name>
<affiliation wicri:level="1"><nlm:aff id="af31"><institution>Center for Vision and Vascular Science, The Queen's University</institution>
,<addr-line>Belfast</addr-line>
,<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Robman, Luba D" sort="Robman, Luba D" uniqKey="Robman L" first="Luba D." last="Robman">Luba D. Robman</name>
<affiliation wicri:level="1"><nlm:aff id="af16"><institution>Centre for Eye Research Australia</institution>
,<institution>Royal Victorian Eye and Ear Hospital, University of Melbourne</institution>
,<addr-line>East Melbourne, Victoria</addr-line>
,<country>Australia</country>
,</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gustafsson, Omar" sort="Gustafsson, Omar" uniqKey="Gustafsson O" first="Omar" last="Gustafsson">Omar Gustafsson</name>
<affiliation wicri:level="1"><nlm:aff id="af10"><addr-line>deCODE genetics, 101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sigurdsson, Haraldur" sort="Sigurdsson, Haraldur" uniqKey="Sigurdsson H" first="Haraldur" last="Sigurdsson">Haraldur Sigurdsson</name>
<affiliation wicri:level="1"><nlm:aff id="af32"><addr-line>Department of Ophthalmology</addr-line>
,<institution>National University Hospital</institution>
,<addr-line>101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af33"><addr-line>Faculty of Medicine</addr-line>
,<institution>University of Iceland</institution>
,<addr-line>101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ortmann, Ward" sort="Ortmann, Ward" uniqKey="Ortmann W" first="Ward" last="Ortmann">Ward Ortmann</name>
<affiliation wicri:level="1"><nlm:aff id="af7"><addr-line>Immunology and Tissue Growth and Repair Department, Human Genetics Group</addr-line>
,<institution>Genentech, Inc.</institution>
,<addr-line>South San Francisco, CA 94080</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af7"><addr-line>Immunology and Tissue Growth and Repair Department, Human Genetics Group</addr-line>
,<institution>Genentech, Inc.</institution>
,<addr-line>South San Francisco, CA 94080</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stefansson, Kari" sort="Stefansson, Kari" uniqKey="Stefansson K" first="Kari" last="Stefansson">Kari Stefansson</name>
<affiliation wicri:level="1"><nlm:aff id="af10"><addr-line>deCODE genetics, 101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af33"><addr-line>Faculty of Medicine</addr-line>
,<institution>University of Iceland</institution>
,<addr-line>101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af20"><addr-line>Department of Internal Medicine</addr-line>
,<institution>Erasmus Medical Center</institution>
,<addr-line>Rotterdam</addr-line>
,<country>The Netherlands</country>
,</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:cut=" and" id="af19"><addr-line>Department of Epidemiology</addr-line>
</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="af18"><addr-line>Department of Ophthalmology</addr-line>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af19"><addr-line>Department of Epidemiology</addr-line>
</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="af18"><addr-line>Department of Ophthalmology</addr-line>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af19"><addr-line>Department of Epidemiology</addr-line>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Allikmets, Rando" sort="Allikmets, Rando" uniqKey="Allikmets R" first="Rando" last="Allikmets">Rando Allikmets</name>
<affiliation wicri:level="1"><nlm:aff id="af17"><addr-line>Department of Ophthalmology</addr-line>
,<institution>Columbia University</institution>
,<addr-line>New York, NY 10032</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af34"><addr-line>Department of Pathology and Cell Biology</addr-line>
,<institution>Columbia University</institution>
,<addr-line>New York, NY 10032</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af25"><addr-line>Department of Ophthalmology and Visual Sciences</addr-line>
,<institution>Washington University School of Medicine</institution>
,<addr-line>St Louis, MO 63110</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af26"><institution>Barnes Retina Institute</institution>
,<addr-line>St Louis, MO 63144</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af16"><institution>Centre for Eye Research Australia</institution>
,<institution>Royal Victorian Eye and Ear Hospital, University of Melbourne</institution>
,<addr-line>East Melbourne, Victoria</addr-line>
,<country>Australia</country>
,</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Katsanis, Nicholas" sort="Katsanis, Nicholas" uniqKey="Katsanis N" first="Nicholas" last="Katsanis">Nicholas Katsanis</name>
<affiliation><nlm:aff id="af11"><institution>Center for Human Disease Modeling</institution>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af12"><addr-line>Department of Cell Biology</addr-line>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af13"><addr-line>Department of Pediatrics</addr-line>
,<institution>Duke University</institution>
,<addr-line>Durham, NC 27710</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Thorsteinsdottir, Unnur" sort="Thorsteinsdottir, Unnur" uniqKey="Thorsteinsdottir U" first="Unnur" last="Thorsteinsdottir">Unnur Thorsteinsdottir</name>
<affiliation wicri:level="1"><nlm:aff id="af10"><addr-line>deCODE genetics, 101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af33"><addr-line>Faculty of Medicine</addr-line>
,<institution>University of Iceland</institution>
,<addr-line>101 Reykjavik</addr-line>
,<country>Iceland</country>
,</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="af2"><institution>Center for Genetic Epidemiology and Modeling</institution>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="af3"><institution>Institute for Clinical Research and Health Policy Studies</institution>
,</nlm:aff>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af4"><institution>Tufts Clinical and Translational Science Institute</institution>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Ophthalmology</addr-line>
,<institution>Tufts Medical Center, Tufts University School of Medicine</institution>
,<addr-line>800 Washington Street, No. 450, Boston, MA 02111</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af24"><addr-line>Department of Hygiene and Epidemiology</addr-line>
,<institution>University of Ioannina School of Medicine</institution>
,<addr-line>Ioannina 45110</addr-line>
,<country>Greece</country>
,</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="af35"><addr-line>Department of Medicine</addr-line>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff wicri:cut=" and" id="af36"><addr-line>Department of Health Research and Policy</addr-line>
,<institution>Stanford Prevention Research Center, Stanford University School of Medicine</institution>
,<addr-line>Stanford, CA 94305</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af8"><institution>Center for Human Genetic Research, Massachusetts General Hospital</institution>
,<addr-line>185 Cambridge Street, Sixth Floor, Boston, MA 02114</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af9"><institution>Program in Medical and Population Genetics, Broad Institute of Harvard and MIT</institution>
,<addr-line>7 Main Street, Cambridge, MA 02142</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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 wicri:level="1"><nlm:aff id="af7"><addr-line>Immunology and Tissue Growth and Repair Department, Human Genetics Group</addr-line>
,<institution>Genentech, Inc.</institution>
,<addr-line>South San Francisco, CA 94080</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="af1"><addr-line>Ophthalmic Epidemiology and Genetics Service</addr-line>
,<institution>New England Eye Center</institution>
,</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Ophthalmology</addr-line>
,<institution>Tufts Medical Center, Tufts University School of Medicine</institution>
,<addr-line>800 Washington Street, No. 450, Boston, MA 02111</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date for advanced AMD. We imputed 6 036 699 single-nucleotide polymorphisms with the 1000 Genomes Project reference genotypes on 2594 cases and 4134 controls with follow-up replication of top signals in 5640 cases and 52 174 controls. We identified two new common susceptibility alleles, rs1999930 on 6q21-q22.3 near <italic>FRK</italic>
/<italic>COL10A1</italic>
[odds ratio (OR) 0.87; <italic>P</italic>
= 1.1 × 10<sup>−8</sup>
] and rs4711751 on 6p12 near <italic>VEGFA</italic>
(OR 1.15; <italic>P</italic>
= 8.7 × 10<sup>−9</sup>
). In addition to the two novel loci, 10 previously reported loci in <italic>ARMS2/HTRA1</italic>
(rs10490924), <italic>CFH</italic>
(rs1061170, and rs1410996), <italic>CFB</italic>
(rs641153), <italic>C3</italic>
(rs2230199), <italic>C2</italic>
(rs9332739), <italic>CFI</italic>
(rs10033900), <italic>LIPC</italic>
(rs10468017), <italic>TIMP3</italic>
(rs9621532) and <italic>CETP</italic>
(rs3764261) were confirmed with genome-wide significant signals in this large study. Loci in the recently reported genes <italic>ABCA1</italic>
and <italic>COL8A1</italic>
were also detected with suggestive evidence of association with advanced AMD. The novel variants identified in this study suggest that angiogenesis (<italic>VEGFA</italic>
) and extracellular collagen matrix (<italic>FRK/COL10A1</italic>
) pathways contribute to the development of advanced AMD.</p>
</div>
</front>
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<name sortKey="Tan, Perciliz L" sort="Tan, Perciliz L" uniqKey="Tan P" first="Perciliz L." last="Tan">Perciliz L. Tan</name>
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