Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma
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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
出版年份2014
月份10
日期1
卷號46
期次10
出版社Nature Publishing Group
頁次1115 - 1119
國際標準期刊號1061-4036
電子國際標準期刊號1546-1718
語言英式英語
Web of Science 學科類別Genetics & Heredity

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