Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies
Identifieur interne : 006440 ( Main/Exploration ); précédent : 006439; suivant : 006441Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies
Auteurs : Gareth J. Mckay [Royaume-Uni] ; Chris C. Patterson [Royaume-Uni] ; Usha Chakravarthy [Royaume-Uni] ; Shilpa Dasari [Royaume-Uni] ; Caroline C. Klaver ; Johannes R. Vingerling [Pays-Bas] ; Lintje Ho [Pays-Bas] ; Paulus T. V. M. De Jong [Pays-Bas] ; Astrid E. Fletcher [Royaume-Uni] ; Ian S. Young [Royaume-Uni] ; Johan H. Seland [Norvège] ; Mati Rahu [Estonie] ; Gisele Soubrane [France] ; Laura Tomazzoli [Italie] ; Fotis Topouzis [Grèce] ; Jesus Vioque [Espagne] ; Aroon D. Hingorani [Royaume-Uni] ; Reecha Sofat [Royaume-Uni] ; Michael Dean [États-Unis] ; Julie Sawitzke [États-Unis] ; Johanna M. Seddon [États-Unis] ; Inga Peter [États-Unis] ; Andrew R. Webster [Royaume-Uni] ; Anthony T. Moore [Royaume-Uni] ; John R. W. Yates [Royaume-Uni] ; Valentina Cipriani [Royaume-Uni] ; Lars G. Fritsche [Allemagne] ; Bernhard H. F. Weber [Allemagne] ; Claudia N. Keilhauer [Allemagne] ; Andrew J. Lotery [Royaume-Uni] ; Sarah Ennis [Royaume-Uni] ; Michael L. Klein [États-Unis] ; Peter J. Francis [États-Unis] ; Dwight Stambolian [États-Unis] ; Anton Orlin [États-Unis] ; Michael B. Gorin [États-Unis] ; Daniel E. Weeks [États-Unis] ; Chia-Ling Kuo [États-Unis] ; Anand Swaroop [États-Unis] ; Mohammad Othman [États-Unis] ; Atsuhiro Kanda [États-Unis] ; Wei Chen [États-Unis] ; Goncalo R. Abecasis [États-Unis] ; Alan F. Wright [Royaume-Uni] ; Caroline Hayward [Royaume-Uni] ; Paul N. Baird [Australie] ; Robyn H. Guymer [Australie] ; John Attia [Australie] ; Ammarin Thakkinstian [Thaïlande] ; Giuliana Silvestri [Royaume-Uni]Source :
- Human Mutation [ 1059-7794 ] ; 2011-12.
Descripteurs français
- Wicri :
- topic : Génétique, Santé publique, Tabagisme.
English descriptors
- KwdEn :
- Additive model, Agerelated macular degeneration, Allele, Apoe, Apoe diplotype, Apoe haplotype, Apoe haplotype frequencies, Apolipoprotein, Belfast, Cholesterol levels, Cholesterol modulation, Complement component, Complement factor, Conley, Degeneration, Diplotype, Disease etiology, Drusen, Drusen formation, Eamd, Etiology, Fritsche, Ganv, Genet, Genetic model, Genetics, Genotype, Haplotype, Haplotype frequencies, Heterogeneity, Human genetics, Human mutation, Jong, Klaver, Klein, Logistic regression model, Macular, Macular degeneration, Maculopathy, Mckay, Mitochondrial, Mutation, Northern ireland, Ophthalmol, Ophthalmology, Oxidative stress, Phenotype, Polymorphism, Proc natl acad, Protective effect, Public health, Recessive, Recessive model, Recruitment procedures, Risk factors, Rotterdam study, Schmidt, Seddon, Smoker, Smoking, Smoking effect, Smoking status, Subphenotype, Subphenotypes, Swaroop, Tting interaction terms, University belfast, University college london, Vingerling.
- Teeft :
- Additive model, Agerelated macular degeneration, Allele, Apoe, Apoe diplotype, Apoe haplotype, Apoe haplotype frequencies, Apolipoprotein, Belfast, Cholesterol levels, Cholesterol modulation, Complement component, Complement factor, Conley, Degeneration, Diplotype, Disease etiology, Drusen, Drusen formation, Eamd, Etiology, Fritsche, Ganv, Genet, Genetic model, Genetics, Genotype, Haplotype, Haplotype frequencies, Heterogeneity, Human genetics, Human mutation, Jong, Klaver, Klein, Logistic regression model, Macular, Macular degeneration, Maculopathy, Mckay, Mitochondrial, Mutation, Northern ireland, Ophthalmol, Ophthalmology, Oxidative stress, Phenotype, Polymorphism, Proc natl acad, Protective effect, Public health, Recessive, Recessive model, Recruitment procedures, Risk factors, Rotterdam study, Schmidt, Seddon, Smoker, Smoking, Smoking effect, Smoking status, Subphenotype, Subphenotypes, Swaroop, Tting interaction terms, University belfast, University college london, Vingerling.
Abstract
Age‐related macular degeneration (AMD) is the most common cause of incurable visual impairment in high‐income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in low‐density cholesterol modulation. Potential interaction between APOE and sex, and smoking status has been reported. We present a pooled analysis (n = 21,160) demonstrating associations between late AMD and APOε4 (odds ratio [OR] = 0.72 per haplotype; confidence interval [CI]: 0.65–0.74; P = 4.41×10−11) and APOε2 (OR = 1.83 for homozygote carriers; CI: 1.04–3.23; P = 0.04), following adjustment for age group and sex within each study and smoking status. No evidence of interaction between APOE and sex or smoking was found. Ever smokers had significant increased risk relative to never smokers for both neovascular (OR = 1.54; CI: 1.38–1.72; P = 2.8×10−15) and atrophic (OR = 1.38; CI: 1.18–1.61; P = 3.37×10−5) AMD but not early AMD (OR = 0.94; CI: 0.86–1.03; P = 0.16), implicating smoking as a major contributing factor to disease progression from early signs to the visually disabling late forms. Extended haplotype analysis incorporating rs405509 did not identify additional risks beyond ε2 and ε4 haplotypes. Our expanded analysis substantially improves our understanding of the association between the APOE locus and AMD. It further provides evidence supporting the role of cholesterol modulation, and low‐density cholesterol specifically, in AMD disease etiology. 32:1407–1416, 2011. ©2011 Wiley Periodicals, Inc.
Url:
- https://api.istex.fr/document/E9CFF8FD25067AFCB720BB38AF90F0E98695EA6C/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217135
DOI: 10.1002/humu.21577
Affiliations:
- Allemagne, Australie, Espagne, Estonie, France, Grèce, Italie, Norvège, Pays-Bas, Royaume-Uni, Thaïlande, États-Unis
- Angleterre, Angleterre de l'Est, Bavière, Californie, District de Basse-Franconie, Grand Londres, Hollande-Méridionale, Hollande-Septentrionale, Irlande du Nord, Maryland, Massachusetts, Michigan, Oregon, Pennsylvanie, Victoria (État), Écosse, État de New York, Île-de-France
- Amsterdam, Cambridge, Londres, Melbourne, Paris, Rotterdam, Wurtzbourg, Édimbourg
- University College de Londres, Université de Cambridge, Université de Melbourne
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Le document en format XML
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Mckay</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Irlande du Nord</region></placeName><wicri:cityArea>Centre for Public Health, Royal Victoria Hospital, Queen's University Belfast, Belfast</wicri:cityArea></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Royaume-Uni</country></affiliation><affiliation></affiliation></author><author><name sortKey="Patterson, Chris C" sort="Patterson, Chris C" uniqKey="Patterson C" first="Chris C." last="Patterson">Chris C. Patterson</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Irlande du Nord</region></placeName><wicri:cityArea>Centre for Public Health, Royal Victoria Hospital, Queen's University Belfast, Belfast</wicri:cityArea></affiliation></author><author><name sortKey="Chakravarthy, Usha" sort="Chakravarthy, Usha" uniqKey="Chakravarthy U" first="Usha" last="Chakravarthy">Usha Chakravarthy</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Irlande du Nord</region></placeName><wicri:cityArea>Centre for Vision and Vascular Science, Royal Victoria Hospital, Queen's University Belfast, Belfast</wicri:cityArea></affiliation></author><author><name sortKey="Dasari, Shilpa" sort="Dasari, Shilpa" uniqKey="Dasari S" first="Shilpa" last="Dasari">Shilpa Dasari</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Irlande du Nord</region></placeName><wicri:cityArea>Centre for Vision and Vascular Science, Royal Victoria Hospital, Queen's University Belfast, Belfast</wicri:cityArea></affiliation></author><author><name sortKey="Klaver, Caroline C" sort="Klaver, Caroline C" uniqKey="Klaver C" first="Caroline C." last="Klaver">Caroline C. Klaver</name><affiliation><wicri:noCountry code="no comma">Departments of Ophthalmology</wicri:noCountry></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 wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Epidemiology, Erasmus Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Ho, Lintje" sort="Ho, Lintje" uniqKey="Ho L" first="Lintje" last="Ho">Lintje Ho</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Epidemiology, Erasmus Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="De Jong, Paulus T V M" sort="De Jong, Paulus T V M" uniqKey="De Jong P" first="Paulus T. V. M." last="De Jong">Paulus T. V. M. De Jong</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>The Netherlands Institute for Neuroscience, KNAW, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Ophthalmology AMC, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Fletcher, Astrid E" sort="Fletcher, Astrid E" uniqKey="Fletcher A" first="Astrid E." last="Fletcher">Astrid E. Fletcher</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Epidemiology & Population Health, London School of Hygiene & Tropical Medicine, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Young, Ian S" sort="Young, Ian S" uniqKey="Young I" first="Ian S." last="Young">Ian S. Young</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Irlande du Nord</region></placeName><wicri:cityArea>Centre for Public Health, Royal Victoria Hospital, Queen's University Belfast, Belfast</wicri:cityArea></affiliation></author><author><name sortKey="Seland, Johan H" sort="Seland, Johan H" uniqKey="Seland J" first="Johan H." last="Seland">Johan H. Seland</name><affiliation wicri:level="1"><country xml:lang="fr">Norvège</country><wicri:regionArea>Eye Department, Stavanger University Hospital, University of Bergen, Stavanger</wicri:regionArea><wicri:noRegion>Stavanger</wicri:noRegion></affiliation></author><author><name sortKey="Rahu, Mati" sort="Rahu, Mati" uniqKey="Rahu M" first="Mati" last="Rahu">Mati Rahu</name><affiliation wicri:level="1"><country xml:lang="fr">Estonie</country><wicri:regionArea>Department of Epidemiology and Biostatistics, National Institute for Health Development, Tallinn</wicri:regionArea><wicri:noRegion>Tallinn</wicri:noRegion></affiliation></author><author><name sortKey="Soubrane, Gisele" sort="Soubrane, Gisele" uniqKey="Soubrane G" first="Gisele" last="Soubrane">Gisele Soubrane</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Clinique Ophthalmologique, Universitaire de Creteil, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Tomazzoli, Laura" sort="Tomazzoli, Laura" uniqKey="Tomazzoli L" first="Laura" last="Tomazzoli">Laura Tomazzoli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Clinica Oculistica,Unversita degli studi di Verona, Verona</wicri:regionArea><wicri:noRegion>Verona</wicri:noRegion></affiliation></author><author><name sortKey="Topouzis, Fotis" sort="Topouzis, Fotis" uniqKey="Topouzis F" first="Fotis" last="Topouzis">Fotis Topouzis</name><affiliation wicri:level="1"><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Ophthalmology, Aristotle University of Thessaloniki, Thessaloniki</wicri:regionArea><wicri:noRegion>Thessaloniki</wicri:noRegion></affiliation></author><author><name sortKey="Vioque, Jesus" sort="Vioque, Jesus" uniqKey="Vioque J" first="Jesus" last="Vioque">Jesus Vioque</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Departamento Salud Publica, University Miguel Hernandez, Alicante</wicri:regionArea><wicri:noRegion>Alicante</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>CIBERESP, Alicante</wicri:regionArea><wicri:noRegion>Alicante</wicri:noRegion></affiliation></author><author><name sortKey="Hingorani, Aroon D" sort="Hingorani, Aroon D" uniqKey="Hingorani A" first="Aroon D." last="Hingorani">Aroon D. Hingorani</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Centre for Clinical Pharmacology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Sofat, Reecha" sort="Sofat, Reecha" uniqKey="Sofat R" first="Reecha" last="Sofat">Reecha Sofat</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Centre for Clinical Pharmacology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medicine, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Dean, Michael" sort="Dean, Michael" uniqKey="Dean M" first="Michael" last="Dean">Michael Dean</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Cancer and Inflammation Program, National Cancer Institute, Frederick</wicri:cityArea></affiliation></author><author><name sortKey="Sawitzke, Julie" sort="Sawitzke, Julie" uniqKey="Sawitzke J" first="Julie" last="Sawitzke">Julie Sawitzke</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Cancer and Inflammation Program, National Cancer Institute, Frederick</wicri:cityArea></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Ophthalmology, Tufts University School of Medicine, Boston</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Tufts Medical Center, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Peter, Inga" sort="Peter, Inga" uniqKey="Peter I" first="Inga" last="Peter">Inga Peter</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York</wicri:cityArea></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="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Ophthalmology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Ophthalmology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Ophthalmology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medical Genetics, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Cipriani, Valentina" sort="Cipriani, Valentina" uniqKey="Cipriani V" first="Valentina" last="Cipriani">Valentina Cipriani</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Ophthalmology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Moorfields Eye Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Fritsche, Lars G" sort="Fritsche, Lars G" uniqKey="Fritsche L" first="Lars G." last="Fritsche">Lars G. Fritsche</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Regensburg, Regensburg</wicri:regionArea><wicri:noRegion>Regensburg</wicri:noRegion><wicri:noRegion>Regensburg</wicri:noRegion></affiliation></author><author><name sortKey="Weber, Bernhard H F" sort="Weber, Bernhard H F" uniqKey="Weber B" first="Bernhard H. F." last="Weber">Bernhard H. F. Weber</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Regensburg, Regensburg</wicri:regionArea><wicri:noRegion>Regensburg</wicri:noRegion><wicri:noRegion>Regensburg</wicri:noRegion></affiliation></author><author><name sortKey="Keilhauer, Claudia N" sort="Keilhauer, Claudia N" uniqKey="Keilhauer C" first="Claudia N." last="Keilhauer">Claudia N. Keilhauer</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Ophthalmology, University Hospital Würzburg, Würzburg</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Basse-Franconie</region><settlement type="city">Wurtzbourg</settlement></placeName></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 wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Neurosciences Division, School of Medicine, University of Southampton, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Southampton Eye Unit, Southampton General Hospital, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Ennis, Sarah" sort="Ennis, Sarah" uniqKey="Ennis S" first="Sarah" last="Ennis">Sarah Ennis</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genetic Epidemiology & Bioinformatics Group Human Genetics Division, University of Southampton</wicri:regionArea><wicri:noRegion>University of Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Michael L" sort="Klein, Michael L" uniqKey="Klein M" first="Michael L." last="Klein">Michael L. Klein</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Oregon</region></placeName><wicri:cityArea>Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University</wicri:cityArea></affiliation></author><author><name sortKey="Francis, Peter J" sort="Francis, Peter J" uniqKey="Francis P" first="Peter J." last="Francis">Peter J. Francis</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Oregon</region></placeName><wicri:cityArea>Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University</wicri:cityArea></affiliation></author><author><name sortKey="Stambolian, Dwight" sort="Stambolian, Dwight" uniqKey="Stambolian D" first="Dwight" last="Stambolian">Dwight Stambolian</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Ophthalmology, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Orlin, Anton" sort="Orlin, Anton" uniqKey="Orlin A" first="Anton" last="Orlin">Anton Orlin</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Ophthalmology, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Gorin, Michael B" sort="Gorin, Michael B" uniqKey="Gorin M" first="Michael B." last="Gorin">Michael B. Gorin</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments of Ophthalmology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles</wicri:cityArea></affiliation></author><author><name sortKey="Weeks, Daniel E" sort="Weeks, Daniel E" uniqKey="Weeks D" first="Daniel E." last="Weeks">Daniel E. Weeks</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Kuo, Chia Ing" sort="Kuo, Chia Ing" uniqKey="Kuo C" first="Chia-Ling" last="Kuo">Chia-Ling Kuo</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Swaroop, Anand" sort="Swaroop, Anand" uniqKey="Swaroop A" first="Anand" last="Swaroop">Anand Swaroop</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurobiology‐Neurodegeneration and Repair Laboratory, National Eye Institute, NIH, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Othman, Mohammad" sort="Othman, Mohammad" uniqKey="Othman M" first="Mohammad" last="Othman">Mohammad Othman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Kanda, Atsuhiro" sort="Kanda, Atsuhiro" uniqKey="Kanda A" first="Atsuhiro" last="Kanda">Atsuhiro Kanda</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Neurobiology‐Neurodegeneration and Repair Laboratory, National Eye Institute, NIH, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Abecasis, Goncalo R" sort="Abecasis, Goncalo R" uniqKey="Abecasis G" first="Goncalo R." last="Abecasis">Goncalo R. Abecasis</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor</wicri:cityArea></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="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Human Genetics Unit, Western General Hospital, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region></placeName></affiliation></author><author><name sortKey="Hayward, Caroline" sort="Hayward, Caroline" uniqKey="Hayward C" first="Caroline" last="Hayward">Caroline Hayward</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Human Genetics Unit, Western General Hospital, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region></placeName></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="4"><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></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="4"><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Attia, John" sort="Attia, John" uniqKey="Attia J" first="John" last="Attia">John Attia</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Clinical Epidemiology and Biostatistics, University of Newcastle, Newcastle</wicri:regionArea><wicri:noRegion>Newcastle</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Hunter Medical Research Institute, John Hunter Hospital, Newcastle</wicri:regionArea><wicri:noRegion>Newcastle</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of General Medicine, John Hunter Hospital, Newcastle</wicri:regionArea><wicri:noRegion>Newcastle</wicri:noRegion></affiliation></author><author><name sortKey="Thakkinstian, Ammarin" sort="Thakkinstian, Ammarin" uniqKey="Thakkinstian A" first="Ammarin" last="Thakkinstian">Ammarin Thakkinstian</name><affiliation wicri:level="1"><country xml:lang="fr">Thaïlande</country><wicri:regionArea>Section for Clinical Epidemiology and Biostatistics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok</wicri:regionArea><wicri:noRegion>Bangkok</wicri:noRegion></affiliation></author><author><name sortKey="Silvestri, Giuliana" sort="Silvestri, Giuliana" uniqKey="Silvestri G" first="Giuliana" last="Silvestri">Giuliana Silvestri</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Irlande du Nord</region></placeName><wicri:cityArea>Centre for Vision and Vascular Science, Royal Victoria Hospital, Queen's University Belfast, Belfast</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">32</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1407">1407</biblScope><biblScope unit="page" to="1416">1416</biblScope><biblScope unit="page-count">42</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-12">2011-12</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Additive model</term><term>Agerelated macular degeneration</term><term>Allele</term><term>Apoe</term><term>Apoe diplotype</term><term>Apoe haplotype</term><term>Apoe haplotype frequencies</term><term>Apolipoprotein</term><term>Belfast</term><term>Cholesterol levels</term><term>Cholesterol modulation</term><term>Complement component</term><term>Complement factor</term><term>Conley</term><term>Degeneration</term><term>Diplotype</term><term>Disease etiology</term><term>Drusen</term><term>Drusen formation</term><term>Eamd</term><term>Etiology</term><term>Fritsche</term><term>Ganv</term><term>Genet</term><term>Genetic model</term><term>Genetics</term><term>Genotype</term><term>Haplotype</term><term>Haplotype frequencies</term><term>Heterogeneity</term><term>Human genetics</term><term>Human mutation</term><term>Jong</term><term>Klaver</term><term>Klein</term><term>Logistic regression model</term><term>Macular</term><term>Macular degeneration</term><term>Maculopathy</term><term>Mckay</term><term>Mitochondrial</term><term>Mutation</term><term>Northern ireland</term><term>Ophthalmol</term><term>Ophthalmology</term><term>Oxidative stress</term><term>Phenotype</term><term>Polymorphism</term><term>Proc natl acad</term><term>Protective effect</term><term>Public health</term><term>Recessive</term><term>Recessive model</term><term>Recruitment procedures</term><term>Risk factors</term><term>Rotterdam study</term><term>Schmidt</term><term>Seddon</term><term>Smoker</term><term>Smoking</term><term>Smoking effect</term><term>Smoking status</term><term>Subphenotype</term><term>Subphenotypes</term><term>Swaroop</term><term>Tting interaction terms</term><term>University belfast</term><term>University college london</term><term>Vingerling</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Additive model</term><term>Agerelated macular degeneration</term><term>Allele</term><term>Apoe</term><term>Apoe diplotype</term><term>Apoe haplotype</term><term>Apoe haplotype frequencies</term><term>Apolipoprotein</term><term>Belfast</term><term>Cholesterol levels</term><term>Cholesterol modulation</term><term>Complement component</term><term>Complement factor</term><term>Conley</term><term>Degeneration</term><term>Diplotype</term><term>Disease etiology</term><term>Drusen</term><term>Drusen formation</term><term>Eamd</term><term>Etiology</term><term>Fritsche</term><term>Ganv</term><term>Genet</term><term>Genetic model</term><term>Genetics</term><term>Genotype</term><term>Haplotype</term><term>Haplotype frequencies</term><term>Heterogeneity</term><term>Human genetics</term><term>Human mutation</term><term>Jong</term><term>Klaver</term><term>Klein</term><term>Logistic regression model</term><term>Macular</term><term>Macular degeneration</term><term>Maculopathy</term><term>Mckay</term><term>Mitochondrial</term><term>Mutation</term><term>Northern ireland</term><term>Ophthalmol</term><term>Ophthalmology</term><term>Oxidative stress</term><term>Phenotype</term><term>Polymorphism</term><term>Proc natl acad</term><term>Protective effect</term><term>Public health</term><term>Recessive</term><term>Recessive model</term><term>Recruitment procedures</term><term>Risk factors</term><term>Rotterdam study</term><term>Schmidt</term><term>Seddon</term><term>Smoker</term><term>Smoking</term><term>Smoking effect</term><term>Smoking status</term><term>Subphenotype</term><term>Subphenotypes</term><term>Swaroop</term><term>Tting interaction terms</term><term>University belfast</term><term>University college london</term><term>Vingerling</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Santé publique</term><term>Tabagisme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Age‐related macular degeneration (AMD) is the most common cause of incurable visual impairment in high‐income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in low‐density cholesterol modulation. Potential interaction between APOE and sex, and smoking status has been reported. We present a pooled analysis (n = 21,160) demonstrating associations between late AMD and APOε4 (odds ratio [OR] = 0.72 per haplotype; confidence interval [CI]: 0.65–0.74; P = 4.41×10−11) and APOε2 (OR = 1.83 for homozygote carriers; CI: 1.04–3.23; P = 0.04), following adjustment for age group and sex within each study and smoking status. No evidence of interaction between APOE and sex or smoking was found. Ever smokers had significant increased risk relative to never smokers for both neovascular (OR = 1.54; CI: 1.38–1.72; P = 2.8×10−15) and atrophic (OR = 1.38; CI: 1.18–1.61; P = 3.37×10−5) AMD but not early AMD (OR = 0.94; CI: 0.86–1.03; P = 0.16), implicating smoking as a major contributing factor to disease progression from early signs to the visually disabling late forms. Extended haplotype analysis incorporating rs405509 did not identify additional risks beyond ε2 and ε4 haplotypes. Our expanded analysis substantially improves our understanding of the association between the APOE locus and AMD. It further provides evidence supporting the role of cholesterol modulation, and low‐density cholesterol specifically, in AMD disease etiology. 32:1407–1416, 2011. ©2011 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Espagne</li><li>Estonie</li><li>France</li><li>Grèce</li><li>Italie</li><li>Norvège</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Thaïlande</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Angleterre de l'Est</li><li>Bavière</li><li>Californie</li><li>District de Basse-Franconie</li><li>Grand Londres</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li><li>Irlande du Nord</li><li>Maryland</li><li>Massachusetts</li><li>Michigan</li><li>Oregon</li><li>Pennsylvanie</li><li>Victoria (État)</li><li>Écosse</li><li>État de New York</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Cambridge</li><li>Londres</li><li>Melbourne</li><li>Paris</li><li>Rotterdam</li><li>Wurtzbourg</li><li>Édimbourg</li></settlement><orgName><li>University College de Londres</li><li>Université de Cambridge</li><li>Université de Melbourne</li></orgName></list><tree><noCountry><name sortKey="Klaver, Caroline C" sort="Klaver, Caroline C" uniqKey="Klaver C" first="Caroline C." last="Klaver">Caroline C. 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