Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma
Publication in refereed journal


摘要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 x 10(-8)) and suggestive evidence of association in PMM2 at 16p13.2 (rs3785176; P= 3.18 x 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 x 10(-19) for rs2487032 representing ABCA1 and P = 5.77 x 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.
著者Chen YH, Lin Y, Vithana EN, Jia LY, Zuo XB, Wong TY, Chen LJ, Zhu XJ, Tam POS, Gong B, Qian SH, Li Z, Liu XQ, Mani B, Luo Q, Guzman C, Leung CKS, Li XB, Cao WJ, Yang QY, Tham CCY, Cheng YL, Zhang XJ, Wang NL, Aung T, Khor CC, Pang CP, Sun XH, Yang ZL
期刊名稱Nature Genetics
出版社Nature Publishing Group
頁次1115 - 1119
Web of Science 學科類別Genetics & Heredity

上次更新時間 2021-18-01 於 00:05