{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:42:26Z","timestamp":1787168546555,"version":"build-2736575974"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2016,5,31]],"date-time":"2016-05-31T00:00:00Z","timestamp":1464652800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2016,5,31]],"date-time":"2016-05-31T00:00:00Z","timestamp":1464652800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Primary open-angle glaucoma (POAG) and age-related macular degeneration (AMD) are leading causes of irreversible blindness. Several loci have been mapped using genome-wide association studies. Until very recently, there was no recognized overlap in the genetic contribution to AMD and POAG. At genome-wide significance level, only\n                    <jats:italic>ABCA1<\/jats:italic>\n                    harbors associations to both diseases. Here, we investigated the genetic architecture of POAG and AMD using genome-wide array data. We estimated the heritability for POAG (h\n                    <jats:sup>2<\/jats:sup>\n                    <jats:sub>g<\/jats:sub>\n                    \u2009=\u20090.42\u2009\u00b1\u20090.09) and AMD (h\n                    <jats:sup>2<\/jats:sup>\n                    <jats:sub>g<\/jats:sub>\n                    \u2009=\u20090.71\u2009\u00b1\u20090.08). Removing known loci for POAG and AMD decreased the h\n                    <jats:sup>2<\/jats:sup>\n                    <jats:sub>g<\/jats:sub>\n                    estimates to 0.36 and 0.24, respectively. There was evidence for a positive genetic correlation between POAG and AMD (r\n                    <jats:sub>g<\/jats:sub>\n                    \u2009=\u20090.47\u2009\u00b1\u20090.25) which remained after removing known loci (r\n                    <jats:sub>g<\/jats:sub>\n                    \u2009=\u20090.64\u2009\u00b1\u20090.31). We also found that the genetic correlation between sexes for POAG was likely to be less than 1 (r\n                    <jats:sub>g<\/jats:sub>\n                    \u2009=\u20090.33\u2009\u00b1\u20090.24), suggesting that differences of prevalence among genders may be partly due to heritable factors.\n                  <\/jats:p>","DOI":"10.1038\/srep26885","type":"journal-article","created":{"date-parts":[[2016,5,31]],"date-time":"2016-05-31T05:41:43Z","timestamp":1464673303000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration"],"prefix":"10.1038","volume":"6","author":[{"given":"Gabriel","family":"Cuellar-Partida","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie E.","family":"Craig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn P.","family":"Burdon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie Jin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan J.","family":"Vote","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Souzeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian L.","family":"McAllister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Isaacs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stewart","family":"Lake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Mackey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian J.","family":"Constable","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex W.","family":"Hewitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart","family":"MacGregor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,5,31]]},"reference":[{"key":"BFsrep26885_CR1","doi-asserted-by":"publisher","first-page":"R59","DOI":"10.1093\/hmg\/ddt396","volume":"22","author":"JN Cooke Bailey","year":"2013","unstructured":"Cooke Bailey, J. N. et al. Advances in the genomics of common eye diseases. Human molecular genetics 22, R59\u201365 (2013).","journal-title":"Human molecular genetics"},{"key":"BFsrep26885_CR2","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1146\/annurev-genom-090413-025610","volume":"15","author":"LG Fritsche","year":"2014","unstructured":"Fritsche, L. G. et al. Age-related macular degeneration: genetics and biology coming together. Annual review of genomics and human genetics 15, 151\u2013171 (2014).","journal-title":"Annual review of genomics and human genetics"},{"key":"BFsrep26885_CR3","doi-asserted-by":"publisher","first-page":"2081","DOI":"10.1016\/j.ophtha.2014.05.013","volume":"121","author":"YC Tham","year":"2014","unstructured":"Tham, Y. C. et al. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology 121, 2081\u20132090 (2014).","journal-title":"Ophthalmology"},{"key":"BFsrep26885_CR4","doi-asserted-by":"crossref","unstructured":"Black, J. R. & Clark, S. J. Age-related macular degeneration: genome-wide association studies to translation. Genetics in medicine: official journal of the American College of Medical Genetics, doi: 10.1038\/gim.2015.70 (2015).","DOI":"10.1038\/gim.2015.70"},{"key":"BFsrep26885_CR5","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/ng.2578","volume":"45","author":"LG Fritsche","year":"2013","unstructured":"Fritsche, L. G. et al. Seven new loci associated with age-related macular degeneration. Nature genetics 45, 433\u2013439, doi: 439e431-432 (2013).","journal-title":"Nature genetics"},{"key":"BFsrep26885_CR6","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1038\/ng.3448","volume":"48(2)","author":"LG Fritsche","year":"2016","unstructured":"Fritsche, L. G. et al. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet. 48(2), 134\u201343, doi: 10.1038\/ng.3448 (2016).","journal-title":"Nat Genet."},{"key":"BFsrep26885_CR7","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1038\/ng.3079","volume":"46","author":"P Gharahkhani","year":"2014","unstructured":"Gharahkhani, P. et al. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nature genetics 46, 1120\u20131125 (2014).","journal-title":"Nature genetics"},{"key":"BFsrep26885_CR8","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1038\/ng.3078","volume":"46","author":"Y Chen","year":"2014","unstructured":"Chen, Y. et al. Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma. Nature genetics 46, 1115\u20131119 (2014).","journal-title":"Nature genetics"},{"key":"BFsrep26885_CR9","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1038\/ng.824","volume":"43","author":"KP Burdon*","year":"2011","unstructured":"Burdon*, K. P. et al. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. *JOINT FIRST AUTHORS. Nature genetics 43, 574\u2013578 (2011).","journal-title":"Nature genetics"},{"key":"BFsrep26885_CR10","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1038\/ng.661","volume":"42","author":"G Thorleifsson","year":"2010","unstructured":"Thorleifsson, G. et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. 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The Incidence and Progression of Age-Related Macular Degeneration over 15 Years: The Blue Mountains Eye Study. Ophthalmology, doi: 10.1016\/j.ophtha.2015.08.002 (2015).","DOI":"10.1016\/j.ophtha.2015.08.002"},{"key":"BFsrep26885_CR33","doi-asserted-by":"crossref","unstructured":"Genomes Project C. et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56\u201365 (2012).","DOI":"10.1038\/nature11632"}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/srep26885","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/srep26885.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/srep26885.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T09:58:13Z","timestamp":1672826293000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/srep26885"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,31]]},"references-count":33,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2016,7,18]]}},"alternative-id":["BFsrep26885"],"URL":"https:\/\/doi.org\/10.1038\/srep26885","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,31]]},"assertion":[{"value":"4 January 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 May 2016","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 May 2016","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"26885"}}