{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T15:24:17Z","timestamp":1781105057015,"version":"3.54.1"},"reference-count":39,"publisher":"National Academy of Sciences","issue":"40","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2009,10,6]]},"abstract":"<jats:p>\n                    Primary open-angle glaucoma (POAG) is the second leading cause of blindness worldwide. Although a number of genetic loci have shown association or genetic linkage to monogenic forms of POAG, the identified genes and loci do not appear to have a major role in the common POAG phenotype. We seek to identify genetic loci that appear to be major risk factors for POAG in the Afro-Caribbean population of Barbados, West Indies. We performed linkage analyses in 146 multiplex families ascertained through the Barbados Family Study of Glaucoma (BFSG) and identified a strong linkage signal on chromosome 2p (logarithm of odds score = 6.64 at \u03b8 = 0 with marker D2S2156). We subsequently performed case-control analyses using unrelated affected individuals and unaffected controls. A set of SNPs on chromosome 2p was evaluated in two independent groups of BFSG participants, a discovery group (130 POAG cases, 65 controls) and a replication group (122 POAG cases, 65 controls), and a strong association was identified with POAG and rs12994401 in both groups (\n                    <jats:italic>P<\/jats:italic>\n                    &lt; 3.34 E\u221209 and\n                    <jats:italic>P<\/jats:italic>\n                    &lt; 1.21E\u221212, respectively). The associated SNPs form a common disease haplotype. In summary, we have identified a locus with a major impact on susceptibility to the common POAG phenotype in an Afro-Caribbean population in Barbados. Our approach illustrates the merit of using an isolated population enriched with common disease variants as an efficient method to identify genetic underpinning of POAG.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0907564106","type":"journal-article","created":{"date-parts":[[2009,9,25]],"date-time":"2009-09-25T09:01:43Z","timestamp":1253869303000},"page":"17105-17110","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":33,"title":["Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados"],"prefix":"10.1073","volume":"106","author":[{"given":"Xiaodong","family":"Jiao","sequence":"first","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, and Barbados Family Study Group, National Institutes of Health, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenglin","family":"Yang","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"},{"name":"Moran Eye Center and"},{"name":"Center for Human Biology and Genetics, Sichuan Provincial People's Hospital, Sichuan 610072, China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xian","family":"Yang","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"},{"name":"Moran Eye Center and"},{"name":"Department of Ophthalmology, School of Medicine, Qingdao University, Qingdao 266021, China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhong","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"},{"name":"Moran Eye Center and"},{"name":"Department of Ophthalmology and Vision Science, Eye and ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai 200031, China; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zongzhong","family":"Tong","sequence":"additional","affiliation":[{"name":"Moran Eye Center and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Zhao","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"},{"name":"Moran Eye Center and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiexi","family":"Zeng","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"},{"name":"Moran Eye Center and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haoyu","family":"Chen","sequence":"additional","affiliation":[{"name":"Moran Eye Center and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Gibbs","sequence":"additional","affiliation":[{"name":"Moran Eye Center and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xufang","family":"Sun","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bei","family":"Li","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. Scott","family":"Wakins","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Meyer","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolei","family":"Wang","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Kasuga","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Bedell","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Pearson","sequence":"additional","affiliation":[{"name":"Moran Eye Center and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert N.","family":"Weinreb","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093-0838;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Cristina","family":"Leske","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, School of Medicine, and Barbados Family Study Group, Stony Brook University, Stony Brook, NY 11794;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anselm","family":"Hennis","sequence":"additional","affiliation":[{"name":"Ministry of Health, Barbados, West Indies, Chronic Disease Research Centre, Tropical Medicine Research Institute, and Barbados Family Study Group, University of the West Indies, Barbados, West Indies;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"DeWan","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Public Health, Yale University School of Medicine, 60 College Street, New Haven, CT 06520;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Nemesure","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, School of Medicine, and Barbados Family Study Group, Stony Brook University, Stony Brook, NY 11794;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn B.","family":"Jorde","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josephine","family":"Hoh","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Public Health, Yale University School of Medicine, 60 College Street, New Haven, CT 06520;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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