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

dc.contributor.authorSimmons, Cameron
dc.date.accessioned2018-09-14T11:15:10Z
dc.date.available2015-10-07T03:10:43Z
dc.date.available2015-04-08en_US
dc.date.available2015-04-08en_US
dc.date.available2015-04-08en_US
dc.date.available2015-04-08en_US
dc.date.available2015-04-08en_US
dc.date.available2015-04-08en_US
dc.date.available2015-04-08en_US
dc.date.available2015-04-08en_US
dc.date.available2015-04-08en_US
dc.date.available2015-04-08en_US
dc.date.available2018-09-14T11:15:10Z
dc.date.issued2015-07-01en_US
dc.description.abstractPrimary 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.urihttps://demo7.dspace.org/handle/10673/227
dc.languageEnglishen_US
dc.titleA common variant near TGFBR3 is associated with primary open angle glaucomaen_US
dc.typeJournal Article
dspace.entity.typePublication
relation.isAuthorOfPublicationb1b2c768-bda1-448a-a073-fc541e8b24d9
relation.isAuthorOfPublication.latestForDiscoveryb1b2c768-bda1-448a-a073-fc541e8b24d9
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