Association of ABCG1 With Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Chinese and Japanese
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摘要PURPOSE. We investigated the association of the ATP-binding cassette, subfamily G, member 1 (ABCG1) gene with polypoidal choroidal vasculopathy (PCV) and neovascular age-related macular degeneration (nAMD) in independent Chinese and Japanese cohorts.METHODS. A total of 12 haplotype-tagging single-nucleotide polymorphisms (SNPs) and the SNP rs57137919 in the ABCG1 gene were first analyzed in a Hong Kong Chinese cohort of 235 nAMD, 236 PCV, and 365 controls, using TaqMan genotyping assays. Two SNPs (rs57137919 and rs225396) that showed a disease-association were genotyped in a Shantou Chinese cohort of 189 nAMD, 187 PCV, and 670 controls, and an Osaka Japanese cohort of 192 nAMD, 204 PCV, and 157 controls, totaling 2435 subjects. Association analysis was performed in individual cohorts, followed by a pooled analysis of the data from all three cohorts.RESULTS. In the Hong Kong cohort, SNP rs57137919 was associated with PCV (odds ratio [OR] = 1.35). A tagging SNP rs225396 was associated with nAMD (OR = 1.28) and PCV (OR = 1.32). In the Osaka cohort, SNP rs225396 was associated with nAMD (OR = 1.42) and PCV (OR = 1.74). In the pooled analysis involving the 3 study cohorts, rs225396 showed an enhanced association with nAMD (P = 0.01, OR = 1.21, I-2 = 14%) and PCV (P = 0.0001, OR = 1.35, I-2 = 46%).CONCLUSIONS. In this study, we have newly identified a haplotype-tagging SNP, rs225396, in ABCG1 to be associated with PCV and nAMD in Chinese and Japanese cohorts. This provides new evidence to support ABCG1 as a susceptibility gene for PCV and nAMD. Further replication in other populations should be warranted.
著者Ma L, Liu K, Tsujikawa M, Chen HY, Brelen ME, Chan VCK, Lai TYY, Sayanagi K, Hara C, Hashida N, Tam POS, Young AL, Chen WQ, Nishida K, Pang CP, Chen LJ
期刊名稱Investigative Ophthalmology & Visual Science
出版年份2016
月份10
卷號57
期次13
出版社ASSOC RESEARCH VISION OPHTHALMOLOGY INC
頁次5758 - 5763
國際標準期刊號0146-0404
電子國際標準期刊號1552-5783
語言英式英語
關鍵詞ABCG1, gene, association, age-related macular degeneration, polypoidal choroidal vasculopathy
Web of Science 學科類別Ophthalmology;Ophthalmology

上次更新時間 2021-17-01 於 01:37