Abstract
Purpose :
To determine the association of the ATP-binding cassette, subfamily G, member 1 (ABCG1) gene with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in Chinese and Japanese.
Methods :
Eleven haplotype-tagging single-nucleotide polymorphisms (SNPs) and the SNP rs57137919 in the ABCG1 gene were genotyped using TaqMan genotyping technology in three cohorts, including a Hong Kong Chinese cohort of over 230 nAMD patients, 230 PCV patients and 360 controls, a Shantou Chinese cohort of 180 nAMD, 180 PCV and 670 controls, and an Osaka Japanese cohort of 190 nAMD, 200 PCV and 150 controls.
Results :
In the Hong Kong cohort, SNP rs57137919 was associated with PCV (odds ratio [OR]=1.3). A tagging SNP rs225396 was associated with both nAMD (OR=1.2) and PCV (OR=1.3). In the Shantou cohort, the effect of rs225396 for nAMD (OR=1.05) and PCV (OR=1.2) were toward the same trend with that in the Hong Kong cohort, though not reaching statistical significance. In the Osaka cohort, SNP rs225396 was associated with both nAMD (OR=1.4) and PCV (OR=1.7), while rs183436 was associated with PCV (OR=1.6). In the meta-analysis involving the 3 cohorts, rs225396 showed an enhanced, significant association with both nAMD (P=0.01; OR=1.2; I2=14%) and PCV (P<0.005; OR=1.3; I2=46%). Also, a haplotype A-T, defined by rs183436 and rs225396, conferred increased risks for nAMD (P=0.04; OR=1.1; I2=8%) and PCV (P=0.01; OR=1.3; I2=54%) in the pooled subjects.
Conclusions :
Results of this study confirmed ABCG1 as a new susceptibility gene for PCV and nAMD in Chinese and Japanese, with a stronger effect on PCV.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.