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Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3

Identifieur interne : 005606 ( Main/Merge ); précédent : 005605; suivant : 005607

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3

Auteurs : Valentina Cipriani [Royaume-Uni] ; Hin-Tak Leung [Royaume-Uni, République populaire de Chine] ; Vincent Plagnol [Royaume-Uni] ; Catey Bunce [Royaume-Uni] ; Jane C. Khan [Royaume-Uni, Australie] ; Humma Shahid [Royaume-Uni] ; Anthony T. Moore [Royaume-Uni] ; Simon P. Harding [Royaume-Uni] ; Paul N. Bishop [Royaume-Uni] ; Caroline Hayward [Royaume-Uni] ; Susan Campbell [Royaume-Uni] ; Ana Maria Armbrecht [Royaume-Uni] ; Baljean Dhillon [Royaume-Uni] ; Ian J. Deary [Royaume-Uni] ; Harry Campbell [Royaume-Uni] ; Malcolm Dunlop [Royaume-Uni] ; Anna F. Dominiczak [Royaume-Uni] ; Samantha S. Mann [Royaume-Uni] ; Sharon A. Jenkins [Royaume-Uni] ; Andrew R. Webster [Royaume-Uni] ; Alan C. Bird [Royaume-Uni] ; Mark Lathrop [France] ; Diana Zelenika [France] ; Eric H. Souied [France] ; José-Alain Sahel [Royaume-Uni, France] ; Thierry Léveillard [France] ; Angela J. Cree ; Jane Gibson [Royaume-Uni] ; Sarah Ennis [Royaume-Uni] ; Andrew J. Lotery [Royaume-Uni] ; Alan F. Wright [Royaume-Uni] ; David G. Clayton [Royaume-Uni] ; John R. W. Yates [Royaume-Uni]

Source :

RBID : PMC:3428154

Abstract

Age-related macular degeneration (AMD) is a leading cause of visual loss in Western populations. Susceptibility is influenced by age, environmental and genetic factors. Known genetic risk loci do not account for all the heritability. We therefore carried out a genome-wide association study of AMD in the UK population with 893 cases of advanced AMD and 2199 controls. This showed an association with the well-established AMD risk loci ARMS2 (age-related maculopathy susceptibility 2)–HTRA1 (HtrA serine peptidase 1) (P =2.7 × 10−72), CFH (complement factor H) (P =2.3 × 10−47), C2 (complement component 2)–CFB (complement factor B) (P =5.2 × 10−9), C3 (complement component 3) (P =2.2 × 10−3) and CFI (P =3.6 × 10−3) and with more recently reported risk loci at VEGFA (P =1.2 × 10−3) and LIPC (hepatic lipase) (P =0.04). Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at TNXB (tenascin XB)–FKBPL (FK506 binding protein like) [rs12153855/rs9391734; discovery P =4.3 × 10−7, replication P =3.0 × 10−4, combined P =1.3 × 10−9, odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3–1.6] and the neighbouring gene NOTCH4 (Notch 4) (rs2071277; discovery P =3.2 × 10−8, replication P =3.8 × 10−5, combined P =2.0 × 10−11, OR = 1.3, 95% CI = 1.2–1.4). These associations remained significant in conditional analyses which included the adjacent C2–CFB locus. TNXB, FKBPL and NOTCH4 are all plausible AMD susceptibility genes, but further research will be needed to identify the causal variants and determine whether any of these genes are involved in the pathogenesis of AMD.


Url:
DOI: 10.1093/hmg/dds225
PubMed: 22694956
PubMed Central: 3428154

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PMC:3428154

Le document en format XML

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<name sortKey="Khan, Jane C" sort="Khan, Jane C" uniqKey="Khan J" first="Jane C." last="Khan">Jane C. Khan</name>
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<addr-line>Cambridge CB2 0XY</addr-line>
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<addr-line>Cambridge CB2 0QQ</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
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<name sortKey="Hayward, Caroline" sort="Hayward, Caroline" uniqKey="Hayward C" first="Caroline" last="Hayward">Caroline Hayward</name>
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<addr-line>Medical Research Council Human Genetics Unit</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
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<name sortKey="Campbell, Susan" sort="Campbell, Susan" uniqKey="Campbell S" first="Susan" last="Campbell">Susan Campbell</name>
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<addr-line>Medical Research Council Human Genetics Unit</addr-line>
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<name sortKey="Armbrecht, Ana Maria" sort="Armbrecht, Ana Maria" uniqKey="Armbrecht A" first="Ana Maria" last="Armbrecht">Ana Maria Armbrecht</name>
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<institution>University of Edinburgh and Princess Alexandra Eye Pavilion</institution>
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<addr-line>Edinburgh EH3 9HA</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
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<name sortKey="Dhillon, Baljean" sort="Dhillon, Baljean" uniqKey="Dhillon B" first="Baljean" last="Dhillon">Baljean Dhillon</name>
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<nlm:aff id="af13">
<addr-line>Department of Ophthalmology</addr-line>
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<institution>University of Edinburgh and Princess Alexandra Eye Pavilion</institution>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
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<name sortKey="Deary, Ian J" sort="Deary, Ian J" uniqKey="Deary I" first="Ian J." last="Deary">Ian J. Deary</name>
<affiliation wicri:level="1">
<nlm:aff id="af14">
<addr-line>Department of Psychology</addr-line>
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<institution>Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh</institution>
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<addr-line>Edinburgh EH8 9JZ</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author>
<name sortKey="Campbell, Harry" sort="Campbell, Harry" uniqKey="Campbell H" first="Harry" last="Campbell">Harry Campbell</name>
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<addr-line>Colon Cancer Genetics Group</addr-line>
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<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit</institution>
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<addr-line>Edinburgh EH4 2XU</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af16">
<addr-line>Centre for Population Health Sciences</addr-line>
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<institution>University of Edinburgh</institution>
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<addr-line>Edinburgh EH8 9AG</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Dunlop, Malcolm" sort="Dunlop, Malcolm" uniqKey="Dunlop M" first="Malcolm" last="Dunlop">Malcolm Dunlop</name>
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<nlm:aff id="af15">
<addr-line>Colon Cancer Genetics Group</addr-line>
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<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit</institution>
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<addr-line>Edinburgh EH4 2XU</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Dominiczak, Anna F" sort="Dominiczak, Anna F" uniqKey="Dominiczak A" first="Anna F." last="Dominiczak">Anna F. Dominiczak</name>
<affiliation wicri:level="1">
<nlm:aff id="af17">
<addr-line>Institute of Cardiovascular and Medical Sciences</addr-line>
,
<institution>University of Glasgow</institution>
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<addr-line>Glasgow G12 8QQ</addr-line>
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<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="Mann, Samantha S" sort="Mann, Samantha S" uniqKey="Mann S" first="Samantha S." last="Mann">Samantha S. Mann</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
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<addr-line>London EC1V 9EL</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
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<addr-line>London EC1V 2PD</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af18">
<institution>St Thomas' Hospital</institution>
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<addr-line>London SE1 7EH</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Jenkins, Sharon A" sort="Jenkins, Sharon A" uniqKey="Jenkins S" first="Sharon A." last="Jenkins">Sharon A. Jenkins</name>
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<institution>Institute of Ophthalmology, University College London</institution>
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<addr-line>London EC1V 9EL</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
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<addr-line>London EC1V 2PD</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af19">
<addr-line>Department of Inherited Cardiovascular Disease</addr-line>
,
<institution>The Heart Hospital</institution>
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<addr-line>London, W1G 8PH</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author>
<name sortKey="Webster, Andrew R" sort="Webster, Andrew R" uniqKey="Webster A" first="Andrew R." last="Webster">Andrew R. Webster</name>
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<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
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<addr-line>London EC1V 9EL</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
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<addr-line>London EC1V 2PD</addr-line>
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<country>UK</country>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author>
<name sortKey="Bird, Alan C" sort="Bird, Alan C" uniqKey="Bird A" first="Alan C." last="Bird">Alan C. Bird</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
,
<addr-line>London EC1V 2PD</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="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name>
<affiliation wicri:level="1">
<nlm:aff id="af20">
<institution>Centre National de Génotypage, Institut Génomique, Commissariat à l'Énergie Atomique</institution>
,
<addr-line>Evry</addr-line>
,
<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af21">
<addr-line>Fondation Jean Dausset-CEPH, 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="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name>
<affiliation wicri:level="1">
<nlm:aff id="af20">
<institution>Centre National de Génotypage, Institut Génomique, Commissariat à l'Énergie Atomique</institution>
,
<addr-line>Evry</addr-line>
,
<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</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="af22">
<institution>Centre Hospitalier Intercommunal de Créteil</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="Sahel, Jose Alain" sort="Sahel, Jose Alain" uniqKey="Sahel J" first="José-Alain" last="Sahel">José-Alain Sahel</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af23">
<addr-line>Department of Genetics</addr-line>
,
<institution>Institut de la Vision, UPMC Univ Paris 06 UMR_S 968/INSERM U968/CNRS-UMR 7210</institution>
,
<addr-line>Paris F-75012</addr-line>
,
<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af24">
<institution>Clinical Investigation Center 503, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts</institution>
,
<addr-line>Paris F-75012</addr-line>
,
<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Leveillard, Thierry" sort="Leveillard, Thierry" uniqKey="Leveillard T" first="Thierry" last="Léveillard">Thierry Léveillard</name>
<affiliation wicri:level="1">
<nlm:aff id="af23">
<addr-line>Department of Genetics</addr-line>
,
<institution>Institut de la Vision, UPMC Univ Paris 06 UMR_S 968/INSERM U968/CNRS-UMR 7210</institution>
,
<addr-line>Paris F-75012</addr-line>
,
<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Cree, Angela J" sort="Cree, Angela J" uniqKey="Cree A" first="Angela J." last="Cree">Angela J. Cree</name>
<affiliation>
<nlm:aff wicri:cut=" and" id="af25">
<addr-line>Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences</addr-line>
</nlm:aff>
<wicri:noCountry code="subfield">Clinical and Experimental Sciences</wicri:noCountry>
</affiliation>
</author>
<author>
<name sortKey="Gibson, Jane" sort="Gibson, Jane" uniqKey="Gibson J" first="Jane" last="Gibson">Jane Gibson</name>
<affiliation wicri:level="1">
<nlm:aff wicri:cut=" and" id="af26">
<addr-line>Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine</addr-line>
,
<institution>University of Southampton</institution>
,
<addr-line>Southampton SO16 6YD</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Ennis, Sarah" sort="Ennis, Sarah" uniqKey="Ennis S" first="Sarah" last="Ennis">Sarah Ennis</name>
<affiliation wicri:level="1">
<nlm:aff wicri:cut=" and" id="af26">
<addr-line>Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine</addr-line>
,
<institution>University of Southampton</institution>
,
<addr-line>Southampton SO16 6YD</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Lotery, Andrew J" sort="Lotery, Andrew J" uniqKey="Lotery A" first="Andrew J." last="Lotery">Andrew J. Lotery</name>
<affiliation>
<nlm:aff wicri:cut=" and" id="af25">
<addr-line>Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences</addr-line>
</nlm:aff>
<wicri:noCountry code="subfield">Clinical and Experimental Sciences</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af27">
<addr-line>Southampton Eye Unit</addr-line>
,
<institution>Southampton General Hospital</institution>
,
<addr-line>Southampton SO16 6YD</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Wright, Alan F" sort="Wright, Alan F" uniqKey="Wright A" first="Alan F." last="Wright">Alan F. Wright</name>
<affiliation wicri:level="1">
<nlm:aff id="af12">
<addr-line>Medical Research Council Human Genetics Unit</addr-line>
,
<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>
,
<addr-line>Edinburgh EH4 2XU</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Clayton, David G" sort="Clayton, David G" uniqKey="Clayton D" first="David G." last="Clayton">David G. Clayton</name>
<affiliation wicri:level="1">
<nlm:aff id="af3">
<addr-line>Department of Medical Genetics,</addr-line>
<institution>Cambridge Institute for Medical Research, University of Cambridge</institution>
,
<addr-line>Cambridge CB2 0XY</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Yates, John R W" sort="Yates, John R W" uniqKey="Yates J" first="John R. W." last="Yates">John R. W. Yates</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
,
<addr-line>London EC1V 2PD</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af3">
<addr-line>Department of Medical Genetics,</addr-line>
<institution>Cambridge Institute for Medical Research, University of Cambridge</institution>
,
<addr-line>Cambridge CB2 0XY</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">PMC</idno>
<idno type="pmid">22694956</idno>
<idno type="pmc">3428154</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428154</idno>
<idno type="RBID">PMC:3428154</idno>
<idno type="doi">10.1093/hmg/dds225</idno>
<date when="2012">2012</date>
<idno type="wicri:Area/Pmc/Corpus">001866</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001866</idno>
<idno type="wicri:Area/Pmc/Curation">001726</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001726</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001F22</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001F22</idno>
<idno type="wicri:Area/Ncbi/Merge">000E56</idno>
<idno type="wicri:Area/Ncbi/Curation">000E56</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000E56</idno>
<idno type="wicri:doubleKey">0964-6906:2012:Cipriani V:genome:wide:association</idno>
<idno type="wicri:Area/Main/Merge">005606</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en" level="a" type="main">Genome-wide association study of age-related macular degeneration identifies associated variants in the
<italic>TNXB–FKBPL–NOTCH4</italic>
region of chromosome 6p21.3</title>
<author>
<name sortKey="Cipriani, Valentina" sort="Cipriani, Valentina" uniqKey="Cipriani V" first="Valentina" last="Cipriani">Valentina Cipriani</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
,
<addr-line>London EC1V 2PD</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="Leung, Hin Tak" sort="Leung, Hin Tak" uniqKey="Leung H" first="Hin-Tak" last="Leung">Hin-Tak Leung</name>
<affiliation wicri:level="1">
<nlm:aff id="af3">
<addr-line>Department of Medical Genetics,</addr-line>
<institution>Cambridge Institute for Medical Research, University of Cambridge</institution>
,
<addr-line>Cambridge CB2 0XY</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af4">
<addr-line>Department of Ophthalmology and Visual Sciences</addr-line>
,
<institution>The Chinese University of Hong Kong</institution>
,
<addr-line>Hong Kong</addr-line>
,
<country>China</country>
,</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Plagnol, Vincent" sort="Plagnol, Vincent" uniqKey="Plagnol V" first="Vincent" last="Plagnol">Vincent Plagnol</name>
<affiliation wicri:level="1">
<nlm:aff id="af5">
<institution>UCL Genetics Institute</institution>
,
<addr-line>London WC1E 6BT</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="Bunce, Catey" sort="Bunce, Catey" uniqKey="Bunce C" first="Catey" last="Bunce">Catey Bunce</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
,
<addr-line>London EC1V 2PD</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af6">
<addr-line>Department of Infectious and Tropical Diseases, London School of Hygiene & Tropical Medicine</addr-line>
,
<institution>University of London</institution>
,
<addr-line>London WC1E 7HT</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Khan, Jane C" sort="Khan, Jane C" uniqKey="Khan J" first="Jane C." last="Khan">Jane C. Khan</name>
<affiliation wicri:level="1">
<nlm:aff id="af3">
<addr-line>Department of Medical Genetics,</addr-line>
<institution>Cambridge Institute for Medical Research, University of Cambridge</institution>
,
<addr-line>Cambridge CB2 0XY</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af7">
<addr-line>Department of Ophthalmology</addr-line>
,
<institution>Royal Perth Hospital</institution>
,
<addr-line>Perth, Western Australia 6001</addr-line>
,
<country>Australia</country>
,</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Shahid, Humma" sort="Shahid, Humma" uniqKey="Shahid H" first="Humma" last="Shahid">Humma Shahid</name>
<affiliation wicri:level="1">
<nlm:aff id="af3">
<addr-line>Department of Medical Genetics,</addr-line>
<institution>Cambridge Institute for Medical Research, University of Cambridge</institution>
,
<addr-line>Cambridge CB2 0XY</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af8">
<addr-line>Department of Ophthalmology</addr-line>
,
<institution>Addenbrooke's Hospital</institution>
,
<addr-line>Cambridge CB2 0QQ</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
,
<addr-line>London EC1V 2PD</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="Harding, Simon P" sort="Harding, Simon P" uniqKey="Harding S" first="Simon P." last="Harding">Simon P. Harding</name>
<affiliation wicri:level="1">
<nlm:aff id="af9">
<addr-line>Department of Eye and Vision Sciences</addr-line>
,
<institution>Institute of Ageing and Chronic Disease, UCD Building, University of Liverpool</institution>
,
<addr-line>Liverpool L69 3GA</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Bishop, Paul N" sort="Bishop, Paul N" uniqKey="Bishop P" first="Paul N." last="Bishop">Paul N. Bishop</name>
<affiliation wicri:level="1">
<nlm:aff id="af10">
<addr-line>School of Biomedicine, Faculty of Medical and Human Sciences</addr-line>
,
<institution>University of Manchester</institution>
,
<addr-line>Manchester M13 9PT</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af11">
<institution>Centre for Advanced Discovery and Experimental Therapeutics, Manchester Academic Health Science Centre, Central Manchester Foundation Trust</institution>
,
<addr-line>Manchester M13 9PL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Hayward, Caroline" sort="Hayward, Caroline" uniqKey="Hayward C" first="Caroline" last="Hayward">Caroline Hayward</name>
<affiliation wicri:level="1">
<nlm:aff id="af12">
<addr-line>Medical Research Council Human Genetics Unit</addr-line>
,
<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>
,
<addr-line>Edinburgh EH4 2XU</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Campbell, Susan" sort="Campbell, Susan" uniqKey="Campbell S" first="Susan" last="Campbell">Susan Campbell</name>
<affiliation wicri:level="1">
<nlm:aff id="af12">
<addr-line>Medical Research Council Human Genetics Unit</addr-line>
,
<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>
,
<addr-line>Edinburgh EH4 2XU</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Armbrecht, Ana Maria" sort="Armbrecht, Ana Maria" uniqKey="Armbrecht A" first="Ana Maria" last="Armbrecht">Ana Maria Armbrecht</name>
<affiliation wicri:level="1">
<nlm:aff id="af13">
<addr-line>Department of Ophthalmology</addr-line>
,
<institution>University of Edinburgh and Princess Alexandra Eye Pavilion</institution>
,
<addr-line>Edinburgh EH3 9HA</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Dhillon, Baljean" sort="Dhillon, Baljean" uniqKey="Dhillon B" first="Baljean" last="Dhillon">Baljean Dhillon</name>
<affiliation wicri:level="1">
<nlm:aff id="af13">
<addr-line>Department of Ophthalmology</addr-line>
,
<institution>University of Edinburgh and Princess Alexandra Eye Pavilion</institution>
,
<addr-line>Edinburgh EH3 9HA</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Deary, Ian J" sort="Deary, Ian J" uniqKey="Deary I" first="Ian J." last="Deary">Ian J. Deary</name>
<affiliation wicri:level="1">
<nlm:aff id="af14">
<addr-line>Department of Psychology</addr-line>
,
<institution>Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh</institution>
,
<addr-line>Edinburgh EH8 9JZ</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Campbell, Harry" sort="Campbell, Harry" uniqKey="Campbell H" first="Harry" last="Campbell">Harry Campbell</name>
<affiliation wicri:level="1">
<nlm:aff id="af15">
<addr-line>Colon Cancer Genetics Group</addr-line>
,
<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit</institution>
,
<addr-line>Edinburgh EH4 2XU</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af16">
<addr-line>Centre for Population Health Sciences</addr-line>
,
<institution>University of Edinburgh</institution>
,
<addr-line>Edinburgh EH8 9AG</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Dunlop, Malcolm" sort="Dunlop, Malcolm" uniqKey="Dunlop M" first="Malcolm" last="Dunlop">Malcolm Dunlop</name>
<affiliation wicri:level="1">
<nlm:aff id="af15">
<addr-line>Colon Cancer Genetics Group</addr-line>
,
<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit</institution>
,
<addr-line>Edinburgh EH4 2XU</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Dominiczak, Anna F" sort="Dominiczak, Anna F" uniqKey="Dominiczak A" first="Anna F." last="Dominiczak">Anna F. Dominiczak</name>
<affiliation wicri:level="1">
<nlm:aff id="af17">
<addr-line>Institute of Cardiovascular and Medical Sciences</addr-line>
,
<institution>University of Glasgow</institution>
,
<addr-line>Glasgow G12 8QQ</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Mann, Samantha S" sort="Mann, Samantha S" uniqKey="Mann S" first="Samantha S." last="Mann">Samantha S. Mann</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
,
<addr-line>London EC1V 2PD</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af18">
<institution>St Thomas' Hospital</institution>
,
<addr-line>London SE1 7EH</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="Jenkins, Sharon A" sort="Jenkins, Sharon A" uniqKey="Jenkins S" first="Sharon A." last="Jenkins">Sharon A. Jenkins</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
,
<addr-line>London EC1V 2PD</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af19">
<addr-line>Department of Inherited Cardiovascular Disease</addr-line>
,
<institution>The Heart Hospital</institution>
,
<addr-line>London, W1G 8PH</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Webster, Andrew R" sort="Webster, Andrew R" uniqKey="Webster A" first="Andrew R." last="Webster">Andrew R. Webster</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
,
<addr-line>London EC1V 2PD</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="Bird, Alan C" sort="Bird, Alan C" uniqKey="Bird A" first="Alan C." last="Bird">Alan C. Bird</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
,
<addr-line>London EC1V 2PD</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="Lathrop, Mark" sort="Lathrop, Mark" uniqKey="Lathrop M" first="Mark" last="Lathrop">Mark Lathrop</name>
<affiliation wicri:level="1">
<nlm:aff id="af20">
<institution>Centre National de Génotypage, Institut Génomique, Commissariat à l'Énergie Atomique</institution>
,
<addr-line>Evry</addr-line>
,
<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af21">
<addr-line>Fondation Jean Dausset-CEPH, 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="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name>
<affiliation wicri:level="1">
<nlm:aff id="af20">
<institution>Centre National de Génotypage, Institut Génomique, Commissariat à l'Énergie Atomique</institution>
,
<addr-line>Evry</addr-line>
,
<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</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="af22">
<institution>Centre Hospitalier Intercommunal de Créteil</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="Sahel, Jose Alain" sort="Sahel, Jose Alain" uniqKey="Sahel J" first="José-Alain" last="Sahel">José-Alain Sahel</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af23">
<addr-line>Department of Genetics</addr-line>
,
<institution>Institut de la Vision, UPMC Univ Paris 06 UMR_S 968/INSERM U968/CNRS-UMR 7210</institution>
,
<addr-line>Paris F-75012</addr-line>
,
<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af24">
<institution>Clinical Investigation Center 503, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts</institution>
,
<addr-line>Paris F-75012</addr-line>
,
<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Leveillard, Thierry" sort="Leveillard, Thierry" uniqKey="Leveillard T" first="Thierry" last="Léveillard">Thierry Léveillard</name>
<affiliation wicri:level="1">
<nlm:aff id="af23">
<addr-line>Department of Genetics</addr-line>
,
<institution>Institut de la Vision, UPMC Univ Paris 06 UMR_S 968/INSERM U968/CNRS-UMR 7210</institution>
,
<addr-line>Paris F-75012</addr-line>
,
<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Cree, Angela J" sort="Cree, Angela J" uniqKey="Cree A" first="Angela J." last="Cree">Angela J. Cree</name>
<affiliation>
<nlm:aff wicri:cut=" and" id="af25">
<addr-line>Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences</addr-line>
</nlm:aff>
<wicri:noCountry code="subfield">Clinical and Experimental Sciences</wicri:noCountry>
</affiliation>
</author>
<author>
<name sortKey="Gibson, Jane" sort="Gibson, Jane" uniqKey="Gibson J" first="Jane" last="Gibson">Jane Gibson</name>
<affiliation wicri:level="1">
<nlm:aff wicri:cut=" and" id="af26">
<addr-line>Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine</addr-line>
,
<institution>University of Southampton</institution>
,
<addr-line>Southampton SO16 6YD</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Ennis, Sarah" sort="Ennis, Sarah" uniqKey="Ennis S" first="Sarah" last="Ennis">Sarah Ennis</name>
<affiliation wicri:level="1">
<nlm:aff wicri:cut=" and" id="af26">
<addr-line>Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine</addr-line>
,
<institution>University of Southampton</institution>
,
<addr-line>Southampton SO16 6YD</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Lotery, Andrew J" sort="Lotery, Andrew J" uniqKey="Lotery A" first="Andrew J." last="Lotery">Andrew J. Lotery</name>
<affiliation>
<nlm:aff wicri:cut=" and" id="af25">
<addr-line>Clinical Neurosciences Research Grouping, Clinical and Experimental Sciences</addr-line>
</nlm:aff>
<wicri:noCountry code="subfield">Clinical and Experimental Sciences</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af27">
<addr-line>Southampton Eye Unit</addr-line>
,
<institution>Southampton General Hospital</institution>
,
<addr-line>Southampton SO16 6YD</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Wright, Alan F" sort="Wright, Alan F" uniqKey="Wright A" first="Alan F." last="Wright">Alan F. Wright</name>
<affiliation wicri:level="1">
<nlm:aff id="af12">
<addr-line>Medical Research Council Human Genetics Unit</addr-line>
,
<institution>Institute of Genetics and Molecular Medicine, University of Edinburgh</institution>
,
<addr-line>Edinburgh EH4 2XU</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Clayton, David G" sort="Clayton, David G" uniqKey="Clayton D" first="David G." last="Clayton">David G. Clayton</name>
<affiliation wicri:level="1">
<nlm:aff id="af3">
<addr-line>Department of Medical Genetics,</addr-line>
<institution>Cambridge Institute for Medical Research, University of Cambridge</institution>
,
<addr-line>Cambridge CB2 0XY</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Yates, John R W" sort="Yates, John R W" uniqKey="Yates J" first="John R. W." last="Yates">John R. W. Yates</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Ophthalmology, University College London</institution>
,
<addr-line>London EC1V 9EL</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<institution>Moorfields Eye Hospital</institution>
,
<addr-line>London EC1V 2PD</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af3">
<addr-line>Department of Medical Genetics,</addr-line>
<institution>Cambridge Institute for Medical Research, University of Cambridge</institution>
,
<addr-line>Cambridge CB2 0XY</addr-line>
,
<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</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="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p>Age-related macular degeneration (AMD) is a leading cause of visual loss in Western populations. Susceptibility is influenced by age, environmental and genetic factors. Known genetic risk loci do not account for all the heritability. We therefore carried out a genome-wide association study of AMD in the UK population with 893 cases of advanced AMD and 2199 controls. This showed an association with the well-established AMD risk loci
<italic>ARMS2</italic>
(age-related maculopathy susceptibility 2)–
<italic>HTRA1</italic>
(HtrA serine peptidase 1) (
<italic>P =</italic>
2.7 × 10
<sup>−72</sup>
),
<italic>CFH</italic>
(complement factor H) (
<italic>P =</italic>
2.3 × 10
<sup>−47</sup>
),
<italic>C2</italic>
(complement component 2)–
<italic>CFB</italic>
(complement factor B) (
<italic>P =</italic>
5.2 × 10
<sup>−9</sup>
),
<italic>C3</italic>
(complement component 3) (
<italic>P =</italic>
2.2 × 10
<sup>−3</sup>
) and
<italic>CFI</italic>
(
<italic>P =</italic>
3.6 × 10
<sup>−3</sup>
) and with more recently reported risk loci at
<italic>VEGFA</italic>
(
<italic>P =</italic>
1.2 × 10
<sup>−3</sup>
) and
<italic>LIPC</italic>
(hepatic lipase) (
<italic>P =</italic>
0.04). Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at
<italic>TNXB</italic>
(tenascin XB)–
<italic>FKBPL</italic>
(FK506 binding protein like) [rs12153855/rs9391734; discovery
<italic>P =</italic>
4.3 × 10
<sup>−7</sup>
, replication
<italic>P =</italic>
3.0 × 10
<sup>−4</sup>
, combined
<italic>P =</italic>
1.3 × 10
<sup>−9</sup>
, odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3–1.6] and the neighbouring gene
<italic>NOTCH4</italic>
(Notch 4) (rs2071277; discovery
<italic>P =</italic>
3.2 × 10
<sup>−8</sup>
, replication
<italic>P =</italic>
3.8 × 10
<sup>−5</sup>
, combined
<italic>P =</italic>
2.0 × 10
<sup>−11</sup>
, OR = 1.3, 95% CI = 1.2–1.4). These associations remained significant in conditional analyses which included the adjacent
<italic>C2</italic>
–
<italic>CFB</italic>
locus.
<italic>TNXB</italic>
,
<italic>FKBPL</italic>
and
<italic>NOTCH4</italic>
are all plausible AMD susceptibility genes, but further research will be needed to identify the causal variants and determine whether any of these genes are involved in the pathogenesis of AMD.</p>
</div>
</front>
</TEI>
</record>

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