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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Evidence of association of <italic>APOE</italic> with age-related macular degeneration - a pooled analysis of 15 studies</title><author><name sortKey="Mckay, Gareth J" sort="Mckay, Gareth J" uniqKey="Mckay G" first="Gareth J." last="Mckay">Gareth J. Mckay</name><affiliation><nlm:aff id="A1">Centre for Public Health, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></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><nlm:aff id="A1">Centre for Public Health, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></affiliation></author><author><name sortKey="Chakravarthy, Usha" sort="Chakravarthy, Usha" uniqKey="Chakravarthy U" first="Usha" last="Chakravarthy">Usha Chakravarthy</name><affiliation><nlm:aff id="A2">Centre for Vision and Vascular Science, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></affiliation></author><author><name sortKey="Dasari, Shilpa" sort="Dasari, Shilpa" uniqKey="Dasari S" first="Shilpa" last="Dasari">Shilpa Dasari</name><affiliation><nlm:aff id="A2">Centre for Vision and Vascular Science, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></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><nlm:aff id="A3">Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vingerling, Johannes R" sort="Vingerling, Johannes R" uniqKey="Vingerling J" first="Johannes R." last="Vingerling">Johannes R. Vingerling</name><affiliation><nlm:aff id="A4">Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Ho, Lintje" sort="Ho, Lintje" uniqKey="Ho L" first="Lintje" last="Ho">Lintje Ho</name><affiliation><nlm:aff id="A4">Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff></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><nlm:aff id="A5">The Netherlands Institute for Neuroscience, KNAW, Amsterdam, The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Ophthalmology AMC, Amsterdam, The Netherlands</nlm:aff></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><nlm:aff id="A7">Department of Epidemiology & Population Health, London School of Hygiene & Tropical Medicine, London, United Kingdom</nlm:aff></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><nlm:aff id="A1">Centre for Public Health, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></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><nlm:aff id="A8">Eye Department, Stavanger University Hospital, University of Bergen, Stavanger, Norway</nlm:aff></affiliation></author><author><name sortKey="Rahu, Mati" sort="Rahu, Mati" uniqKey="Rahu M" first="Mati" last="Rahu">Mati Rahu</name><affiliation><nlm:aff id="A9">Department of Epidemiology and Biostatistics, National Institute for Health Development, Tallinn, Estonia</nlm:aff></affiliation></author><author><name sortKey="Soubrane, Gisele" sort="Soubrane, Gisele" uniqKey="Soubrane G" first="Gisele" last="Soubrane">Gisele Soubrane</name><affiliation><nlm:aff id="A10">Clinique Ophthalmologique, Universitaire de Creteil, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tomazzoli, Laura" sort="Tomazzoli, Laura" uniqKey="Tomazzoli L" first="Laura" last="Tomazzoli">Laura Tomazzoli</name><affiliation><nlm:aff id="A11">Clinica Oculistica, Unversita degli studi di Verona, Verona, Italy</nlm:aff></affiliation></author><author><name sortKey="Topouzis, Fotis" sort="Topouzis, Fotis" uniqKey="Topouzis F" first="Fotis" last="Topouzis">Fotis Topouzis</name><affiliation><nlm:aff id="A12">Department of Ophthalmology, Aristotle University of Thessaloniki, Thessaloniki, Greece</nlm:aff></affiliation></author><author><name sortKey="Vioque, Jesus" sort="Vioque, Jesus" uniqKey="Vioque J" first="Jesus" last="Vioque">Jesus Vioque</name><affiliation><nlm:aff id="A13">Departamento Salud Publica University Miguel Hernandez, Alicante, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="A14">CIBERESP, Alicante, Spain</nlm:aff></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><nlm:aff id="A15">University Centre for Clinical Pharmacology</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Department of Medicine, University College London, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Sofat, Reecha" sort="Sofat, Reecha" uniqKey="Sofat R" first="Reecha" last="Sofat">Reecha Sofat</name><affiliation><nlm:aff id="A15">University Centre for Clinical Pharmacology</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Department of Medicine, University College London, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Dean, Michael" sort="Dean, Michael" uniqKey="Dean M" first="Michael" last="Dean">Michael Dean</name><affiliation><nlm:aff id="A17">Cancer and Inflammation Program, National Cancer Institute, Frederick, Maryland</nlm:aff></affiliation></author><author><name sortKey="Sawitzke, Julie" sort="Sawitzke, Julie" uniqKey="Sawitzke J" first="Julie" last="Sawitzke">Julie Sawitzke</name><affiliation><nlm:aff id="A17">Cancer and Inflammation Program, National Cancer Institute, Frederick, Maryland</nlm:aff></affiliation></author><author><name sortKey="Seddon, Johanna M" sort="Seddon, Johanna M" uniqKey="Seddon J" first="Johanna M." last="Seddon">Johanna M. Seddon</name><affiliation><nlm:aff id="A18">Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts</nlm:aff></affiliation><affiliation><nlm:aff id="A19">Tufts Medical Center, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Peter, Inga" sort="Peter, Inga" uniqKey="Peter I" first="Inga" last="Peter">Inga Peter</name><affiliation><nlm:aff id="A20">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, New York</nlm:aff></affiliation></author><author><name sortKey="Webster, Andrew R" sort="Webster, Andrew R" uniqKey="Webster A" first="Andrew R." last="Webster">Andrew R. Webster</name><affiliation><nlm:aff id="A21">Institute of Ophthalmology, University College London, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Moorfields Eye Hospital, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name><affiliation><nlm:aff id="A21">Institute of Ophthalmology, University College London, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Moorfields Eye Hospital, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Yates, John R W" sort="Yates, John R W" uniqKey="Yates J" first="John R. W." last="Yates">John R. W. Yates</name><affiliation><nlm:aff id="A21">Institute of Ophthalmology, University College London, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Moorfields Eye Hospital, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Cipriani, Valentina" sort="Cipriani, Valentina" uniqKey="Cipriani V" first="Valentina" last="Cipriani">Valentina Cipriani</name><affiliation><nlm:aff id="A21">Institute of Ophthalmology, University College London, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Moorfields Eye Hospital, London, United Kingdom</nlm:aff></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><nlm:aff id="A24">Institute of Human Genetics, University of Regensburg, Regensburg, Germany</nlm:aff></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><nlm:aff id="A24">Institute of Human Genetics, University of Regensburg, Regensburg, Germany</nlm:aff></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><nlm:aff id="A25">Department of Ophthalmology, University Hospital Würzburg, Würzburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Lotery, Andrew J" sort="Lotery, Andrew J" uniqKey="Lotery A" first="Andrew J." last="Lotery">Andrew J. Lotery</name><affiliation><nlm:aff id="A26">Clinical Neurosciences Division, School of Medicine, University of Southampton, Southampton, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A27">Southampton Eye Unit, Southampton General Hospital, Southampton, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Ennis, Sarah" sort="Ennis, Sarah" uniqKey="Ennis S" first="Sarah" last="Ennis">Sarah Ennis</name><affiliation><nlm:aff id="A28">Genetic Epidemiology & Bioinformatics Group Human Genetics Division, University of Southampton, United Kingdom</nlm:aff></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><nlm:aff id="A29">Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Oregon</nlm:aff></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><nlm:aff id="A29">Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Oregon</nlm:aff></affiliation></author><author><name sortKey="Stambolian, Dwight" sort="Stambolian, Dwight" uniqKey="Stambolian D" first="Dwight" last="Stambolian">Dwight Stambolian</name><affiliation><nlm:aff id="A30">Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Orlin, Anton" sort="Orlin, Anton" uniqKey="Orlin A" first="Anton" last="Orlin">Anton Orlin</name><affiliation><nlm:aff id="A30">Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania</nlm:aff></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><nlm:aff id="A31">Departments of Ophthalmology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California</nlm:aff></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><nlm:aff id="A32">Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Kuo, Chia Ling" sort="Kuo, Chia Ling" uniqKey="Kuo C" first="Chia-Ling" last="Kuo">Chia-Ling Kuo</name><affiliation><nlm:aff id="A32">Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Swaroop, Anand" sort="Swaroop, Anand" uniqKey="Swaroop A" first="Anand" last="Swaroop">Anand Swaroop</name><affiliation><nlm:aff id="A33">Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan</nlm:aff></affiliation><affiliation><nlm:aff id="A34">Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH, Bethesda, Maryland</nlm:aff></affiliation></author><author><name sortKey="Othman, Mohammad" sort="Othman, Mohammad" uniqKey="Othman M" first="Mohammad" last="Othman">Mohammad Othman</name><affiliation><nlm:aff id="A33">Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan</nlm:aff></affiliation></author><author><name sortKey="Kanda, Atsuhiro" sort="Kanda, Atsuhiro" uniqKey="Kanda A" first="Atsuhiro" last="Kanda">Atsuhiro Kanda</name><affiliation><nlm:aff id="A34">Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH, Bethesda, Maryland</nlm:aff></affiliation></author><author><name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name><affiliation><nlm:aff id="A35">Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, Michigan</nlm:aff></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><nlm:aff id="A35">Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, Michigan</nlm:aff></affiliation></author><author><name sortKey="Wright, Alan F" sort="Wright, Alan F" uniqKey="Wright A" first="Alan F." last="Wright">Alan F. Wright</name><affiliation><nlm:aff id="A36">MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Hayward, Caroline" sort="Hayward, Caroline" uniqKey="Hayward C" first="Caroline" last="Hayward">Caroline Hayward</name><affiliation><nlm:aff id="A36">MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Baird, Paul N" sort="Baird, Paul N" uniqKey="Baird P" first="Paul N." last="Baird">Paul N. Baird</name><affiliation><nlm:aff id="A37">Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia</nlm:aff></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><nlm:aff id="A37">Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Attia, John" sort="Attia, John" uniqKey="Attia J" first="John" last="Attia">John Attia</name><affiliation><nlm:aff id="A38">Centre for Clinical Epidemiology and Biostatistics, University of Newcastle, Newcastle, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A39">Hunter Medical Research Institute, Newcastle, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A40">Department of General Medicine, John Hunter Hospital, Newcastle, Australia</nlm:aff></affiliation></author><author><name sortKey="Thakkinstian, Ammarin" sort="Thakkinstian, Ammarin" uniqKey="Thakkinstian A" first="Ammarin" last="Thakkinstian">Ammarin Thakkinstian</name><affiliation><nlm:aff id="A41">Section for Clinical Epidemiology and Biostatistics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand</nlm:aff></affiliation></author><author><name sortKey="Silvestri, Giuliana" sort="Silvestri, Giuliana" uniqKey="Silvestri G" first="Giuliana" last="Silvestri">Giuliana Silvestri</name><affiliation><nlm:aff id="A2">Centre for Vision and Vascular Science, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21882290</idno><idno type="pmc">3217135</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217135</idno><idno type="RBID">PMC:3217135</idno><idno type="doi">10.1002/humu.21577</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001555</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001555</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Evidence of association of <italic>APOE</italic> with age-related macular degeneration - a pooled analysis of 15 studies</title><author><name sortKey="Mckay, Gareth J" sort="Mckay, Gareth J" uniqKey="Mckay G" first="Gareth J." last="Mckay">Gareth J. Mckay</name><affiliation><nlm:aff id="A1">Centre for Public Health, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></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><nlm:aff id="A1">Centre for Public Health, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></affiliation></author><author><name sortKey="Chakravarthy, Usha" sort="Chakravarthy, Usha" uniqKey="Chakravarthy U" first="Usha" last="Chakravarthy">Usha Chakravarthy</name><affiliation><nlm:aff id="A2">Centre for Vision and Vascular Science, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></affiliation></author><author><name sortKey="Dasari, Shilpa" sort="Dasari, Shilpa" uniqKey="Dasari S" first="Shilpa" last="Dasari">Shilpa Dasari</name><affiliation><nlm:aff id="A2">Centre for Vision and Vascular Science, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></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><nlm:aff id="A3">Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vingerling, Johannes R" sort="Vingerling, Johannes R" uniqKey="Vingerling J" first="Johannes R." last="Vingerling">Johannes R. Vingerling</name><affiliation><nlm:aff id="A4">Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Ho, Lintje" sort="Ho, Lintje" uniqKey="Ho L" first="Lintje" last="Ho">Lintje Ho</name><affiliation><nlm:aff id="A4">Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff></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><nlm:aff id="A5">The Netherlands Institute for Neuroscience, KNAW, Amsterdam, The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Ophthalmology AMC, Amsterdam, The Netherlands</nlm:aff></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><nlm:aff id="A7">Department of Epidemiology & Population Health, London School of Hygiene & Tropical Medicine, London, United Kingdom</nlm:aff></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><nlm:aff id="A1">Centre for Public Health, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></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><nlm:aff id="A8">Eye Department, Stavanger University Hospital, University of Bergen, Stavanger, Norway</nlm:aff></affiliation></author><author><name sortKey="Rahu, Mati" sort="Rahu, Mati" uniqKey="Rahu M" first="Mati" last="Rahu">Mati Rahu</name><affiliation><nlm:aff id="A9">Department of Epidemiology and Biostatistics, National Institute for Health Development, Tallinn, Estonia</nlm:aff></affiliation></author><author><name sortKey="Soubrane, Gisele" sort="Soubrane, Gisele" uniqKey="Soubrane G" first="Gisele" last="Soubrane">Gisele Soubrane</name><affiliation><nlm:aff id="A10">Clinique Ophthalmologique, Universitaire de Creteil, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tomazzoli, Laura" sort="Tomazzoli, Laura" uniqKey="Tomazzoli L" first="Laura" last="Tomazzoli">Laura Tomazzoli</name><affiliation><nlm:aff id="A11">Clinica Oculistica, Unversita degli studi di Verona, Verona, Italy</nlm:aff></affiliation></author><author><name sortKey="Topouzis, Fotis" sort="Topouzis, Fotis" uniqKey="Topouzis F" first="Fotis" last="Topouzis">Fotis Topouzis</name><affiliation><nlm:aff id="A12">Department of Ophthalmology, Aristotle University of Thessaloniki, Thessaloniki, Greece</nlm:aff></affiliation></author><author><name sortKey="Vioque, Jesus" sort="Vioque, Jesus" uniqKey="Vioque J" first="Jesus" last="Vioque">Jesus Vioque</name><affiliation><nlm:aff id="A13">Departamento Salud Publica University Miguel Hernandez, Alicante, Spain</nlm:aff></affiliation><affiliation><nlm:aff id="A14">CIBERESP, Alicante, Spain</nlm:aff></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><nlm:aff id="A15">University Centre for Clinical Pharmacology</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Department of Medicine, University College London, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Sofat, Reecha" sort="Sofat, Reecha" uniqKey="Sofat R" first="Reecha" last="Sofat">Reecha Sofat</name><affiliation><nlm:aff id="A15">University Centre for Clinical Pharmacology</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Department of Medicine, University College London, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Dean, Michael" sort="Dean, Michael" uniqKey="Dean M" first="Michael" last="Dean">Michael Dean</name><affiliation><nlm:aff id="A17">Cancer and Inflammation Program, National Cancer Institute, Frederick, Maryland</nlm:aff></affiliation></author><author><name sortKey="Sawitzke, Julie" sort="Sawitzke, Julie" uniqKey="Sawitzke J" first="Julie" last="Sawitzke">Julie Sawitzke</name><affiliation><nlm:aff id="A17">Cancer and Inflammation Program, National Cancer Institute, Frederick, Maryland</nlm:aff></affiliation></author><author><name sortKey="Seddon, Johanna M" sort="Seddon, Johanna M" uniqKey="Seddon J" first="Johanna M." last="Seddon">Johanna M. Seddon</name><affiliation><nlm:aff id="A18">Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts</nlm:aff></affiliation><affiliation><nlm:aff id="A19">Tufts Medical Center, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Peter, Inga" sort="Peter, Inga" uniqKey="Peter I" first="Inga" last="Peter">Inga Peter</name><affiliation><nlm:aff id="A20">Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, New York</nlm:aff></affiliation></author><author><name sortKey="Webster, Andrew R" sort="Webster, Andrew R" uniqKey="Webster A" first="Andrew R." last="Webster">Andrew R. Webster</name><affiliation><nlm:aff id="A21">Institute of Ophthalmology, University College London, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Moorfields Eye Hospital, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name><affiliation><nlm:aff id="A21">Institute of Ophthalmology, University College London, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Moorfields Eye Hospital, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Yates, John R W" sort="Yates, John R W" uniqKey="Yates J" first="John R. W." last="Yates">John R. W. Yates</name><affiliation><nlm:aff id="A21">Institute of Ophthalmology, University College London, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Moorfields Eye Hospital, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Cipriani, Valentina" sort="Cipriani, Valentina" uniqKey="Cipriani V" first="Valentina" last="Cipriani">Valentina Cipriani</name><affiliation><nlm:aff id="A21">Institute of Ophthalmology, University College London, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Moorfields Eye Hospital, London, United Kingdom</nlm:aff></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><nlm:aff id="A24">Institute of Human Genetics, University of Regensburg, Regensburg, Germany</nlm:aff></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><nlm:aff id="A24">Institute of Human Genetics, University of Regensburg, Regensburg, Germany</nlm:aff></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><nlm:aff id="A25">Department of Ophthalmology, University Hospital Würzburg, Würzburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Lotery, Andrew J" sort="Lotery, Andrew J" uniqKey="Lotery A" first="Andrew J." last="Lotery">Andrew J. Lotery</name><affiliation><nlm:aff id="A26">Clinical Neurosciences Division, School of Medicine, University of Southampton, Southampton, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A27">Southampton Eye Unit, Southampton General Hospital, Southampton, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Ennis, Sarah" sort="Ennis, Sarah" uniqKey="Ennis S" first="Sarah" last="Ennis">Sarah Ennis</name><affiliation><nlm:aff id="A28">Genetic Epidemiology & Bioinformatics Group Human Genetics Division, University of Southampton, United Kingdom</nlm:aff></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><nlm:aff id="A29">Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Oregon</nlm:aff></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><nlm:aff id="A29">Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Oregon</nlm:aff></affiliation></author><author><name sortKey="Stambolian, Dwight" sort="Stambolian, Dwight" uniqKey="Stambolian D" first="Dwight" last="Stambolian">Dwight Stambolian</name><affiliation><nlm:aff id="A30">Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Orlin, Anton" sort="Orlin, Anton" uniqKey="Orlin A" first="Anton" last="Orlin">Anton Orlin</name><affiliation><nlm:aff id="A30">Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania</nlm:aff></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><nlm:aff id="A31">Departments of Ophthalmology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California</nlm:aff></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><nlm:aff id="A32">Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Kuo, Chia Ling" sort="Kuo, Chia Ling" uniqKey="Kuo C" first="Chia-Ling" last="Kuo">Chia-Ling Kuo</name><affiliation><nlm:aff id="A32">Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania</nlm:aff></affiliation></author><author><name sortKey="Swaroop, Anand" sort="Swaroop, Anand" uniqKey="Swaroop A" first="Anand" last="Swaroop">Anand Swaroop</name><affiliation><nlm:aff id="A33">Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan</nlm:aff></affiliation><affiliation><nlm:aff id="A34">Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH, Bethesda, Maryland</nlm:aff></affiliation></author><author><name sortKey="Othman, Mohammad" sort="Othman, Mohammad" uniqKey="Othman M" first="Mohammad" last="Othman">Mohammad Othman</name><affiliation><nlm:aff id="A33">Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan</nlm:aff></affiliation></author><author><name sortKey="Kanda, Atsuhiro" sort="Kanda, Atsuhiro" uniqKey="Kanda A" first="Atsuhiro" last="Kanda">Atsuhiro Kanda</name><affiliation><nlm:aff id="A34">Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH, Bethesda, Maryland</nlm:aff></affiliation></author><author><name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name><affiliation><nlm:aff id="A35">Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, Michigan</nlm:aff></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><nlm:aff id="A35">Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, Michigan</nlm:aff></affiliation></author><author><name sortKey="Wright, Alan F" sort="Wright, Alan F" uniqKey="Wright A" first="Alan F." last="Wright">Alan F. Wright</name><affiliation><nlm:aff id="A36">MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Hayward, Caroline" sort="Hayward, Caroline" uniqKey="Hayward C" first="Caroline" last="Hayward">Caroline Hayward</name><affiliation><nlm:aff id="A36">MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Baird, Paul N" sort="Baird, Paul N" uniqKey="Baird P" first="Paul N." last="Baird">Paul N. Baird</name><affiliation><nlm:aff id="A37">Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia</nlm:aff></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><nlm:aff id="A37">Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Attia, John" sort="Attia, John" uniqKey="Attia J" first="John" last="Attia">John Attia</name><affiliation><nlm:aff id="A38">Centre for Clinical Epidemiology and Biostatistics, University of Newcastle, Newcastle, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A39">Hunter Medical Research Institute, Newcastle, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A40">Department of General Medicine, John Hunter Hospital, Newcastle, Australia</nlm:aff></affiliation></author><author><name sortKey="Thakkinstian, Ammarin" sort="Thakkinstian, Ammarin" uniqKey="Thakkinstian A" first="Ammarin" last="Thakkinstian">Ammarin Thakkinstian</name><affiliation><nlm:aff id="A41">Section for Clinical Epidemiology and Biostatistics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand</nlm:aff></affiliation></author><author><name sortKey="Silvestri, Giuliana" sort="Silvestri, Giuliana" uniqKey="Silvestri G" first="Giuliana" last="Silvestri">Giuliana Silvestri</name><affiliation><nlm:aff id="A2">Centre for Vision and Vascular Science, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</nlm:aff></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</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 id="P1">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 <italic>APOε4</italic> (OR=0.72 per haplotype; CI: 0.65–0.74; P=4.41×10<sup>−11</sup>) and <italic>APOε2</italic> (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 <italic>APOE</italic> 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<sup>−15</sup>) and atrophic (OR=1.38; CI: 1.18–1.61; P=3.37×10<sup>−5</sup>) 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<italic>ε2</italic> and <italic>ε4</italic> haplotypes. Our expanded analysis substantially improves our understanding of the association between the <italic>APOE</italic> locus and AMD. It further provides evidence supporting the role of cholesterol modulation, and low-density cholesterol specifically, in AMD disease etiology.</p></div></front></TEI><pmc article-type="research-article" xml:lang="en"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9215429</journal-id><journal-id journal-id-type="pubmed-jr-id">2408</journal-id><journal-id journal-id-type="nlm-ta">Hum Mutat</journal-id><journal-title-group><journal-title>Human mutation</journal-title></journal-title-group><issn pub-type="ppub">1059-7794</issn><issn pub-type="epub">1098-1004</issn></journal-meta><article-meta><article-id pub-id-type="pmid">21882290</article-id><article-id pub-id-type="pmc">3217135</article-id><article-id pub-id-type="doi">10.1002/humu.21577</article-id><article-id pub-id-type="manuscript">NIHMS317766</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Evidence of association of <italic>APOE</italic> with age-related macular degeneration - a pooled analysis of 15 studies</article-title></title-group><contrib-group><contrib 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contrib-type="author"><name><surname>Ho</surname><given-names>Lintje</given-names></name><xref rid="A4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>de Jong</surname><given-names>Paulus T.V.M.</given-names></name><xref rid="A5" ref-type="aff">5</xref><xref rid="A6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Fletcher</surname><given-names>Astrid E.</given-names></name><xref rid="A7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Young</surname><given-names>Ian S.</given-names></name><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Seland</surname><given-names>Johan H.</given-names></name><xref rid="A8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Rahu</surname><given-names>Mati</given-names></name><xref rid="A9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Soubrane</surname><given-names>Gisele</given-names></name><xref rid="A10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Tomazzoli</surname><given-names>Laura</given-names></name><xref rid="A11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Topouzis</surname><given-names>Fotis</given-names></name><xref rid="A12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Vioque</surname><given-names>Jesus</given-names></name><xref rid="A13" ref-type="aff">13</xref><xref rid="A14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Hingorani</surname><given-names>Aroon D.</given-names></name><xref rid="A15" ref-type="aff">15</xref><xref rid="A16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Sofat</surname><given-names>Reecha</given-names></name><xref rid="A15" ref-type="aff">15</xref><xref rid="A16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Dean</surname><given-names>Michael</given-names></name><xref rid="A17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Sawitzke</surname><given-names>Julie</given-names></name><xref rid="A17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Seddon</surname><given-names>Johanna M.</given-names></name><xref rid="A18" ref-type="aff">18</xref><xref rid="A19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Peter</surname><given-names>Inga</given-names></name><xref rid="A20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Webster</surname><given-names>Andrew R.</given-names></name><xref rid="A21" ref-type="aff">21</xref><xref rid="A22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Moore</surname><given-names>Anthony T.</given-names></name><xref rid="A21" ref-type="aff">21</xref><xref rid="A22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Yates</surname><given-names>John R.W.</given-names></name><xref rid="A21" ref-type="aff">21</xref><xref rid="A22" ref-type="aff">22</xref><xref rid="A23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>Cipriani</surname><given-names>Valentina</given-names></name><xref rid="A21" ref-type="aff">21</xref><xref rid="A22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Fritsche</surname><given-names>Lars G.</given-names></name><xref rid="A24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Weber</surname><given-names>Bernhard H.F.</given-names></name><xref rid="A24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Keilhauer</surname><given-names>Claudia N.</given-names></name><xref rid="A25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>Lotery</surname><given-names>Andrew J.</given-names></name><xref rid="A26" ref-type="aff">26</xref><xref rid="A27" ref-type="aff">27</xref></contrib><contrib contrib-type="author"><name><surname>Ennis</surname><given-names>Sarah</given-names></name><xref rid="A28" ref-type="aff">28</xref></contrib><contrib contrib-type="author"><name><surname>Klein</surname><given-names>Michael L.</given-names></name><xref rid="A29" ref-type="aff">29</xref></contrib><contrib contrib-type="author"><name><surname>Francis</surname><given-names>Peter J.</given-names></name><xref rid="A29" ref-type="aff">29</xref></contrib><contrib contrib-type="author"><name><surname>Stambolian</surname><given-names>Dwight</given-names></name><xref rid="A30" ref-type="aff">30</xref></contrib><contrib contrib-type="author"><name><surname>Orlin</surname><given-names>Anton</given-names></name><xref rid="A30" ref-type="aff">30</xref></contrib><contrib contrib-type="author"><name><surname>Gorin</surname><given-names>Michael B.</given-names></name><xref rid="A31" ref-type="aff">31</xref></contrib><contrib contrib-type="author"><name><surname>Weeks</surname><given-names>Daniel E.</given-names></name><xref rid="A32" ref-type="aff">32</xref></contrib><contrib contrib-type="author"><name><surname>Kuo</surname><given-names>Chia-Ling</given-names></name><xref rid="A32" ref-type="aff">32</xref></contrib><contrib contrib-type="author"><name><surname>Swaroop</surname><given-names>Anand</given-names></name><xref rid="A33" ref-type="aff">33</xref><xref rid="A34" ref-type="aff">34</xref></contrib><contrib contrib-type="author"><name><surname>Othman</surname><given-names>Mohammad</given-names></name><xref rid="A33" ref-type="aff">33</xref></contrib><contrib contrib-type="author"><name><surname>Kanda</surname><given-names>Atsuhiro</given-names></name><xref rid="A34" ref-type="aff">34</xref></contrib><contrib contrib-type="author"><name><surname>Chen</surname><given-names>Wei</given-names></name><xref rid="A35" ref-type="aff">35</xref></contrib><contrib contrib-type="author"><name><surname>Abecasis</surname><given-names>Goncalo R.</given-names></name><xref rid="A35" ref-type="aff">35</xref></contrib><contrib contrib-type="author"><name><surname>Wright</surname><given-names>Alan F.</given-names></name><xref rid="A36" ref-type="aff">36</xref></contrib><contrib contrib-type="author"><name><surname>Hayward</surname><given-names>Caroline</given-names></name><xref rid="A36" ref-type="aff">36</xref></contrib><contrib contrib-type="author"><name><surname>Baird</surname><given-names>Paul N.</given-names></name><xref rid="A37" ref-type="aff">37</xref></contrib><contrib contrib-type="author"><name><surname>Guymer</surname><given-names>Robyn H.</given-names></name><xref rid="A37" ref-type="aff">37</xref></contrib><contrib contrib-type="author"><name><surname>Attia</surname><given-names>John</given-names></name><xref rid="A38" ref-type="aff">38</xref><xref rid="A39" ref-type="aff">39</xref><xref rid="A40" ref-type="aff">40</xref></contrib><contrib contrib-type="author"><name><surname>Thakkinstian</surname><given-names>Ammarin</given-names></name><xref rid="A41" ref-type="aff">41</xref></contrib><contrib contrib-type="author"><name><surname>Silvestri</surname><given-names>Giuliana</given-names></name><xref rid="A2" ref-type="aff">2</xref></contrib></contrib-group><aff id="A1"><label>1</label>Centre for Public Health, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</aff><aff id="A2"><label>2</label>Centre for Vision and Vascular Science, Royal Victoria Hospital, Queen’s University Belfast, Belfast, Northern Ireland BT12 6BA</aff><aff id="A3"><label>3</label>Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands</aff><aff id="A4"><label>4</label>Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands</aff><aff id="A5"><label>5</label>The Netherlands Institute for Neuroscience, KNAW, Amsterdam, The Netherlands</aff><aff id="A6"><label>6</label>Department of Ophthalmology AMC, Amsterdam, The Netherlands</aff><aff id="A7"><label>7</label>Department of Epidemiology & Population Health, London School of Hygiene & Tropical Medicine, London, United Kingdom</aff><aff id="A8"><label>8</label>Eye Department, Stavanger University Hospital, University of Bergen, Stavanger, Norway</aff><aff id="A9"><label>9</label>Department of Epidemiology and Biostatistics, National Institute for Health Development, Tallinn, Estonia</aff><aff id="A10"><label>10</label>Clinique Ophthalmologique, Universitaire de Creteil, Paris, France</aff><aff id="A11"><label>11</label>Clinica Oculistica, Unversita degli studi di Verona, Verona, Italy</aff><aff id="A12"><label>12</label>Department of Ophthalmology, Aristotle University of Thessaloniki, Thessaloniki, Greece</aff><aff id="A13"><label>13</label>Departamento Salud Publica University Miguel Hernandez, Alicante, Spain</aff><aff id="A14"><label>14</label>CIBERESP, Alicante, Spain</aff><aff id="A15"><label>15</label>University Centre for Clinical Pharmacology</aff><aff id="A16"><label>16</label>Department of Medicine, University College London, London, United Kingdom</aff><aff id="A17"><label>17</label>Cancer and Inflammation Program, National Cancer Institute, Frederick, Maryland</aff><aff id="A18"><label>18</label>Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts</aff><aff id="A19"><label>19</label>Tufts Medical Center, Boston, Massachusetts</aff><aff id="A20"><label>20</label>Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, New York</aff><aff id="A21"><label>21</label>Institute of Ophthalmology, University College London, London, United Kingdom</aff><aff id="A22"><label>22</label>Moorfields Eye Hospital, London, United Kingdom</aff><aff id="A23"><label>23</label>Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom</aff><aff id="A24"><label>24</label>Institute of Human Genetics, University of Regensburg, Regensburg, Germany</aff><aff id="A25"><label>25</label>Department of Ophthalmology, University Hospital Würzburg, Würzburg, Germany</aff><aff id="A26"><label>26</label>Clinical Neurosciences Division, School of Medicine, University of Southampton, Southampton, United Kingdom</aff><aff id="A27"><label>27</label>Southampton Eye Unit, Southampton General Hospital, Southampton, United Kingdom</aff><aff id="A28"><label>28</label>Genetic Epidemiology & Bioinformatics Group Human Genetics Division, University of Southampton, United Kingdom</aff><aff id="A29"><label>29</label>Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Oregon</aff><aff id="A30"><label>30</label>Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania</aff><aff id="A31"><label>31</label>Departments of Ophthalmology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California</aff><aff id="A32"><label>32</label>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania</aff><aff id="A33"><label>33</label>Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan</aff><aff id="A34"><label>34</label>Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, NIH, Bethesda, Maryland</aff><aff id="A35"><label>35</label>Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, Michigan</aff><aff id="A36"><label>36</label>MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom</aff><aff id="A37"><label>37</label>Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia</aff><aff id="A38"><label>38</label>Centre for Clinical Epidemiology and Biostatistics, University of Newcastle, Newcastle, Australia</aff><aff id="A39"><label>39</label>Hunter Medical Research Institute, Newcastle, Australia</aff><aff id="A40"><label>40</label>Department of General Medicine, John Hunter Hospital, Newcastle, Australia</aff><aff id="A41"><label>41</label>Section for Clinical Epidemiology and Biostatistics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand</aff><author-notes><corresp id="FN1">Corresponding author: Dr Gareth J. McKay, Phone: 44 (0)28 9063 5232, Fax: 44 (0)28 9023 5900, <email>g.j.mckay@qub.ac.uk</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>31</day><month>8</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>12</day><month>9</month><year>2011</year></pub-date><pub-date pub-type="ppub"><month>12</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>11</month><year>2012</year></pub-date><volume>32</volume><issue>12</issue><fpage>1407</fpage><lpage>1416</lpage><abstract><p id="P1">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 <italic>APOε4</italic> (OR=0.72 per haplotype; CI: 0.65–0.74; P=4.41×10<sup>−11</sup>) and <italic>APOε2</italic> (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 <italic>APOE</italic> 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<sup>−15</sup>) and atrophic (OR=1.38; CI: 1.18–1.61; P=3.37×10<sup>−5</sup>) 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<italic>ε2</italic> and <italic>ε4</italic> haplotypes. Our expanded analysis substantially improves our understanding of the association between the <italic>APOE</italic> locus and AMD. It further provides evidence supporting the role of cholesterol modulation, and low-density cholesterol specifically, in AMD disease etiology.</p></abstract><kwd-group><kwd>age-related macular degeneration</kwd><kwd>AMD</kwd><kwd>apolipoprotein E</kwd><kwd>APOE</kwd><kwd>case-control association study</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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