A common variant near TGFBR3 is associated with primary open angle glaucoma.
Li Z, Allingham RR, Nakano M et al.
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Abstract
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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.
2,735 East Asian ancestry cases, 590 African American cases, 121 South Asian ancestry cases, 58 South East Asian ancestry cases, 6,410 East Asian ancestry controls, 636 African American controls, 716 South Asian ancestry controls, 1,984 South East Asian ancestry controls
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