Purpose:
To investigate whether polymorphisms in vascular endothelial growth factor A (VEGF-A) and VEGF receptor-2 (KDR) genes are associated with polypoidal choroidal vasculopathy (PCV) in a Korean population and whether they are associated with phenotypes of PCV.
Methods:
This is a case-control study comprised of 111 patients with PCV and 123 control subjects. The PCV and control groups were genotyped for 5 polymorphisms in VEGF-A and 1 polymorphism in KDR genes. Clinical characteristics were evaluated including best-corrected visual acuity, fundus findings, and angiographic findings at first visit. Main outcome measures were the genotypes of the variants and association with the phenotypes.
Results:
Only rs833069 in VEGF-A generated significant allelic associations with PCV (P = 2.24x10-5). The GG genotype group in rs833069 had a 6.25-fold increased risk (P = 7.45x10-5; 95% confidence interval [CI], 2.52-15.46) and AG group had a 1.82-fold increased risk of PCV (P = 0.029; 95% CI, 1.03-3.24) compared to AA group, respectively. The haplotype (CCGC) in VEGF-A showed an association with PCV (P = 2.90x10-5). However, phenotypic characteristics of PCV did not show an association with the rs833069 genotypes.
Conclusions:
The rs833069 polymorphism in VEGF-A is significantly associated with the risk of PCV in a Korean population.
Keywords: genetics • age-related macular degeneration • retina