Background: Recently, two genome-wide association studies with large cohorts both identified rs9621532, a new single nucleotide polymorphism (SNP) that is associated with advanced age-related macular degeneration (AMD) and located near the TIMP3 gene. Previous studies have demonstrated that AMD and polypoidal choroidal vasculopathy (PCV) share some common genetic background and that the incidence of PCV is higher in Asian populations than Caucasian populations. In this study, we aimed to investigate whether the rs9621532 SNP is associated with neovascular AMD (nAMD) and PCV in a Chinese Han population.
Methods: We performed a case-control study in a Chinese Han population. The rs9621532 SNP was genotyped in 136 patients with nAMD, 195 patients with PCV, and 181 control individuals using the Multiplex SNaPshot system and the direct DNA sequencing technique. Rs9621532 genotypes and allele frequencies in the nAMD, PCV and control groups were evaluated using PLINK software.
Results: In the nAMD, PCV, and control groups, the minor allele frequencies of the rs9621532 variant were 0.05147, 0.02564, and 0.03039, respectively. The rs9621532 SNP was not significantly associated with susceptibility to nAMD (p = 0.1773) or PCV (p = 0.6933). None of the p-values for the additive or dominant models were found to be statistically significant in the nAMD or PCV groups. No recessive homozygotes were genotyped in any of the three groups.
Conclusions: No evidence was found to support an association between the rs9621532 variant and susceptibility to either nAMD or PCV in a Chinese Han population.