{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:02:11Z","timestamp":1791928931234,"version":"4.3.4"},"reference-count":33,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"13","license":[{"start":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T00:00:00Z","timestamp":1761696000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2025,10,29]]},"DOI":"10.1167\/iovs.66.13.51","type":"journal-article","created":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T12:00:58Z","timestamp":1761739258000},"page":"51","source":"Crossref","is-referenced-by-count":3,"title":["Diverse-Ancestry GWAS of Age-Related Macular Degeneration on 16,108 Examined Cases and 18,038 Controls"],"prefix":"10.1167","volume":"66","author":[{"given":"Mathias","family":"Gorski","sequence":"first","affiliation":[{"name":"Department of Genetic Epidemiology, University of Regensburg, Regensburg, Bavaria, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Grunin","sequence":"additional","affiliation":[{"name":"Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States"},{"name":"Braun School of Public Health and Community Medicine, Hebrew University of Jerusalem, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janina M.","family":"Herold","sequence":"additional","affiliation":[{"name":"Department of Genetic Epidemiology, University of Regensburg, Regensburg, Bavaria, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Fr\u00f6hlich","sequence":"additional","affiliation":[{"name":"Department of Genetic Epidemiology, University of Regensburg, Regensburg, Bavaria, Germany"},{"name":"Faculty of Informatics and Data Science, University of Regensburg, Regensburg, Bavaria, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merle","family":"Behr","sequence":"additional","affiliation":[{"name":"Faculty of Informatics and Data Science, University of Regensburg, Regensburg, Bavaria, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Wheeler","sequence":"additional","affiliation":[{"name":"Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William S.","family":"Bush","sequence":"additional","affiliation":[{"name":"Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeunjoo E.","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofeng","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan H.","family":"Blanton","sequence":"additional","affiliation":[{"name":"The John P. Hussman Institute for Human Genomics, University of Miami School of Medicine, Miami, Florida, United States"},{"name":"Dr John T. Macdonald Department of Human Genetics, University of Miami School of Medicine, Miami, Florida, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret A.","family":"Pericak-Vance","sequence":"additional","affiliation":[{"name":"The John P. Hussman Institute for Human Genomics, University of Miami School of Medicine, Miami, Florida, United States"},{"name":"Dr John T. Macdonald Department of Human Genetics, University of Miami School of Medicine, Miami, Florida, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris M.","family":"Heid","sequence":"additional","affiliation":[{"name":"Department of Genetic Epidemiology, University of Regensburg, Regensburg, Bavaria, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan L.","family":"Haines","sequence":"additional","affiliation":[{"name":"Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the International Age-Related Macular Degeneration Genomics Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1159\/000451065","article-title":"Characteristics and predictors of early and delayed responders to ranibizumab treatment in neovascular age-related macular degeneration: a retrospective analysis from the ANCHOR, MARINA, HARBOR, and CATT Trials","volume":"236","author":"Gale","year":"2016","journal-title":"Ophthalmologica."},{"key":"bib2","doi-asserted-by":"publisher","first-page":"2659","DOI":"10.1038\/s41588-024-01764-0","article-title":"Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries","volume":"56","author":"Gorman","year":"2024","journal-title":"Nat Genet."},{"key":"bib3","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1038\/s10038-020-0750-x","article-title":"Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration","volume":"65","author":"Han","year":"2020","journal-title":"J Hum Genet"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"1584","DOI":"10.1038\/s41598-020-58510-9","article-title":"A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration","volume":"10","author":"Strunz","year":"2020","journal-title":"Sci Rep"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"765321","DOI":"10.3389\/fneur.2022.765321","article-title":"Sleep, pain, and neurodegeneration: a Mendelian randomization study","volume":"13","author":"Grover","year":"2022","journal-title":"Front Neurol"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"1299","DOI":"10.1001\/jamaophthalmol.2021.4601","article-title":"Association of smoking, alcohol consumption, blood pressure, body mass index, and glycemic risk factors with age-related macular degeneration: a Mendelian randomization study","volume":"139","author":"Kuan","year":"2021","journal-title":"JAMA Ophthalmol"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"1414","DOI":"10.1089\/thy.2024.0257","article-title":"Thyroid function, diabetes, and common age-related eye diseases: a Mendelian randomization study","volume":"34","author":"Ellervik","year":"2024","journal-title":"Thyroid"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"100146","DOI":"10.1016\/j.xops.2022.100146","article-title":"Evaluating a causal relationship between complement factor I protein level and advanced age-related macular degeneration using Mendelian randomization","volume":"2","author":"Jones","year":"2022","journal-title":"Ophthalmol Sci"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"2225","DOI":"10.1167\/iovs.15-18571","article-title":"Genetic association analysis of drusen progression","volume":"57","author":"Hoffman","year":"2016","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"1766","DOI":"10.3390\/cells11111766","article-title":"Vitronectin and its interaction with PAI-1 suggests a functional link to vascular changes in AMD pathobiology","volume":"11","author":"Biasella","year":"2022","journal-title":"Cells"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"100002","DOI":"10.1016\/j.xops.2020.100002","article-title":"Genetic association between MMP9 and choroidal neovascularization in age-related macular degeneration","volume":"1","author":"Sohn","year":"2021","journal-title":"Ophthalmol Sci"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/s13073-017-0418-0","article-title":"Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits","volume":"9","author":"Grassmann","year":"2017","journal-title":"Genome Med"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1038\/ng.3448","article-title":"A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants","volume":"48","author":"Fritsche","year":"2016","journal-title":"Nat Genet"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1002\/gepi.22204","article-title":"On the differences between mega- and meta-imputation and analysis exemplified on the genetics of age-related macular degeneration","volume":"43","author":"Gorski","year":"2019","journal-title":"Genet Epidemiol"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1038\/ng.3656","article-title":"Next-generation genotype imputation service and methods","volume":"48","author":"Das","year":"2016","journal-title":"Nat Genet"},{"key":"bib16","first-page":"3326","article-title":"A high-performance computing toolset for relatedness and principal component analysis of SNP data","volume":"28","author":"Zheng","year":"2012","journal-title":"Bioinformatics (Oxford, England)"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1038\/s41588-021-00870-7","article-title":"Computationally efficient whole-genome regression for quantitative and binary traits","volume":"53","author":"Mbatchou","year":"2021","journal-title":"Nat Genet"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1002\/gepi.21742","article-title":"Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants","volume":"37","author":"Ma","year":"2013","journal-title":"Genet Epidemiol"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"101","DOI":"10.2307\/3001666","article-title":"The combination of estimates from different experiments","volume":"10","author":"Cochran","year":"1954","journal-title":"Biometrics"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1038\/s41588-023-01604-7","article-title":"MESuSiE enables scalable and powerful multi-ancestry fine-mapping of causal variants in genome-wide association studies","volume":"56","author":"Gao","year":"2024","journal-title":"Nat Genet"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"e1010299","DOI":"10.1371\/journal.pgen.1010299","article-title":"Fine-mapping from summary data with the \"Sum of Single Effects\" model","volume":"18","author":"Zou","year":"2022","journal-title":"PLoS Genet"},{"key":"bib22","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/ng.2578","article-title":"Seven new loci associated with age-related macular degeneration","volume":"45","author":"Fritsche","year":"2013","journal-title":"Nat Genet"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"2197","DOI":"10.1016\/j.jmb.2019.04.009","article-title":"Can predicted protein 3D structures provide reliable insights into whether missense variants are disease associated?","volume":"431","author":"Ittisoponpisan","year":"2019","journal-title":"J Mol Biol"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"e109483","DOI":"10.1371\/journal.pone.0109483","article-title":"Alpha-1-antitrypsin: a novel human high temperature requirement protease A1 (HTRA1) substrate in human placental tissue","volume":"9","author":"Frochaux","year":"2014","journal-title":"PLoS One"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"12223","DOI":"10.1038\/s41598-025-96570-x","article-title":"Role of alpha-1 antitrypsin in Bruch's membrane integrity","volume":"15","author":"Cheng","year":"2025","journal-title":"Sci Rep"},{"key":"bib26","doi-asserted-by":"crossref","first-page":"257","DOI":"10.3389\/fimmu.2015.00257","article-title":"Complement system part II: role in immunity","volume":"6","author":"Merle","year":"2015","journal-title":"Front Immunol"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"1327883","DOI":"10.3389\/fopht.2023.1327883","article-title":"Geographic atrophy: pathophysiology and current therapeutic strategies","volume":"3","author":"Rajanala","year":"2023","journal-title":"Front Ophthalmol"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1016\/j.ophtha.2024.01.033","article-title":"Predictive performance of an updated polygenic risk score for age-related macular degeneration","volume":"131","author":"Yu","year":"2024","journal-title":"Ophthalmology"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"6611","DOI":"10.1038\/s41598-019-43144-3","article-title":"Genetic risk score has added value over initial clinical grading stage in predicting disease progression in age-related macular degeneration","volume":"9","author":"Heesterbeek","year":"2019","journal-title":"Sci Rep"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"13034","DOI":"10.1038\/s41598-024-63065-0","article-title":"Genome wide association study and genomic risk prediction of age related macular degeneration in Israel","volume":"14","author":"Grunin","year":"2024","journal-title":"Sci Rep"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1002\/gepi.22336","article-title":"Chances and challenges of machine learning-based disease classification in genetic association studies illustrated on age-related macular degeneration","volume":"44","author":"Guenther","year":"2020","journal-title":"Genet Epidemiol"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1167\/iovs.64.12.31","article-title":"Genetic risk score analysis supports a joint view of two classification systems for age-related macular degeneration","volume":"64","author":"Herold","year":"2023","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1093\/aje\/kwh121","article-title":"Measurement error and misclassification in statistics and epidemiology: impacts and Bayesian adjustments","volume":"159","author":"Levy","year":"2004","journal-title":"Am J Epidemiol"}],"container-title":["Investigative Ophthalmology & Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2811022","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:32:07Z","timestamp":1791927127000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2811022"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,29]]},"references-count":33,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2025,10,1]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.66.13.51","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10,29]]}}}