Polymorphisms in the VEGF-A in polypoidal choroidal vasculopathy in a Korean population

The aim of this study was to investigate whether polymorphisms in the vascular endothelial growth factor A gene (VEGF-A) are associated with polypoidal choroidal vasculopathy (PCV) in a Korean population and whether they are associated with PCV phenotypes.

This was a case-control study comprising 111 patients with PCV and 123 control participants. The PCV and control groups were genotyped for five polymorphisms in VEGF-A. Clinical characteristics were evaluated, including best-corrected visual acuity, fundus findings, and angiography findings at the first visit. Main outcome measures were the genotypes of variants and association with phenotypes.

Only rs833069 in VEGF-A generated significant allelic associations with PCV (P = 2.24 × 10(-5)). As compared with the AA group, the GG genotype group in rs833069 had a 6.25-fold increased risk of PCV [P = 7.45 × 10(-5), 95% confidence interval (CI) 2.52-15.46] and the AG group had a 1.82-fold increased risk (P = 0.029, 95% CI 1.03-3.24). The haplotype CCGC in VEGF-A showed an association with PCV (P = 2.90 × 10(-5)). However, the phenotypic characteristics of PCV did not show an association with the rs833069 genotypes.

The rs833069 polymorphism in VEGF-A was significantly associated with the risk of PCV in a Korean population.