Publication:
A common variant near TGFBR3 is associated with primary open angle glaucoma

dc.contributor.author Simmons, Cameron
dc.date.accessioned 2018-09-14T11:15:10Z
dc.date.available 2015-10-07T03:10:43Z
dc.date.available 2015-04-08 en_US
dc.date.available 2015-04-08 en_US
dc.date.available 2015-04-08 en_US
dc.date.available 2015-04-08 en_US
dc.date.available 2015-04-08 en_US
dc.date.available 2015-04-08 en_US
dc.date.available 2015-04-08 en_US
dc.date.available 2015-04-08 en_US
dc.date.available 2015-04-08 en_US
dc.date.available 2015-04-08 en_US
dc.date.available 2018-09-14T11:15:10Z
dc.date.issued 2015-07-01 en_US
dc.description.abstract Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10(-8)). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.
dc.identifier.uri https://demo7.dspace.org/handle/123456789/227
dc.language English en_US
dc.title A common variant near TGFBR3 is associated with primary open angle glaucoma en_US
dc.type Journal Article
dspace.entity.type Publication
relation.isAuthorOfPublication b1b2c768-bda1-448a-a073-fc541e8b24d9
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