Common Variants Near ABCA1 and in PMM2 Are Associated with Primary Open-angle Glaucoma

Overview

Journal Nat Genet

Specialty Genetics

Date 2014 Sep 1

PMID 25173107

Citations 97

Authors

Yuhong Chen

Ying Lin

Eranga N Vithana

Liyun Jia

Xianbo Zuo

Tien Yin Wong

Li Jia Chen

Xianjun Zhu

Pancy O S Tam

Bo Gong

Shaohong Qian

Zheng Li

Xiaoqi Liu

Baskaran Mani

Qian Luo

Celeste Guzman

Christopher K S Leung

Xiaobo Li

Wenjun Cao

Quanyao Yang

Clement C Y Tham

Yilian Cheng

Xuejun Zhang

Ningli Wang

Tin Aung

Chiea Chuen Khor

Chi Pui Pang

Xinghuai Sun

Zhenglin Yang

Affiliations

Soon will be listed here.

Abstract

We performed a genome-wide association study for primary open-angle glaucoma (POAG) in 1,007 cases with high-pressure glaucoma (HPG) and 1,009 controls from southern China. We observed genome-wide significant association at multiple SNPs near ABCA1 at 9q31.1 (rs2487032; P = 1.66 × 10(-8)) and suggestive evidence of association in PMM2 at 16p13.2 (rs3785176; P = 3.18 × 10(-6)). We replicated these findings in a set of 525 HPG cases and 912 controls from Singapore and a further set of 1,374 POAG cases and 4,053 controls from China. We observed genome-wide significant association with more than one SNP at the two loci (P = 2.79 × 10(-19) for rs2487032 representing ABCA1 and P = 5.77 × 10(-10) for rs3785176 representing PMM2). Both ABCA1 and PMM2 are expressed in the trabecular meshwork, optic nerve and other ocular tissues. In addition, ABCA1 is highly expressed in the ganglion cell layer of the retina, a finding consistent with it having a role in the development of glaucoma.

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