Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from...

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Autor principal: Simmons, Cameron
Formato: Journal Article
Idioma:inglês
Publicado em: 2018
Acesso em linha:https://demo7.dspace.org/handle/123456789/224
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author Simmons, Cameron
author_browse Simmons, Cameron
author_facet Simmons, Cameron
author_sort Simmons, Cameron
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description Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.
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spelling oai:localhost:123456789-2242021-04-07T16:30:08Z Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma Simmons, Cameron Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG. 2018-09-14T11:15:10Z 2017-07-12T03:58:34Z 2018-09-14T11:15:10Z 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-08-01 2012-10-01 Journal Article https://demo7.dspace.org/handle/123456789/224 English
spellingShingle Simmons, Cameron
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
title Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
title_full Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
title_fullStr Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
title_full_unstemmed Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
title_short Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
title_sort genome wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
url https://demo7.dspace.org/handle/123456789/224
work_keys_str_mv AT simmonscameron genomewideassociationanalysesidentifythreenewsusceptibilitylociforprimaryangleclosureglaucoma