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Oxford University Press (OUP), Human Molecular Genetics

DOI: 10.1093/hmg/ddv128

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

Journal article published in 2015 by Tina Ty Wong, Tien Yin Wong, Zheng Li ORCID, Rr Rand Allingham, Masakazu Nakano, Tina T. Wong, Liyun Jia, Y. Chen, Yoko Ikeda, Baskaran Mani, Li-Jia Chen, Changwon Kee, David F. Garway-Heath, Sarangapani Sripriya, Khaled Kk Abu-Amero and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.