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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.

Original publication

DOI

10.1093/hmg/ddv128

Type

Journal article

Journal

Hum Mol Genet

Publication Date

01/07/2015

Volume

24

Pages

3880 - 3892

Keywords

Aged, Aged, 80 and over, Alleles, Female, Genetic Variation, Genotype, Glaucoma, Open-Angle, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Proteoglycans, Receptors, Transforming Growth Factor beta