Association of ARMS2/HTRA1 variants with polypoidal choroidal vasculopathy phenotype in a Korean population.

PURPOSE

To investigate whether ARMS2 (rs10490924)/HTRA1 (rs11200638) variants are associated with polypoidal choroidal vasculopathy (PCV) in a Korean population and with various PCV phenotypes.

METHODS

A case-control study comprised of 103 patients with PCV and 112 control subjects. The PCV and control groups were genotyped for ARMS2 (rs10490924) and HTRA1 (rs11200638) polymorphisms. Clinical characteristics were evaluated, including best-corrected visual acuity (BCVA), fundus findings, and angiographic findings, at first visit.

RESULTS

Two single nucleotide polymorphisms generated highly significant allelic associations with PCV. The frequency of vitreous hemorrhage (VH) was different among the genotypes with respect to both rs10490924 and rs11200638. The frequency of the T allele of rs10490924 was higher in PCV patients with VH than in PCV patients without VH. The frequency of the A allele of rs11200638 was higher in PCV patients with VH than in PCV patients without VH. In rs10490924, the mean BCVA of the GG genotype group was better than that of the TT and TG genotype groups. In rs11200638, the mean BCVA of the GG genotype group was better than that of the AA and AG genotype groups.

CONCLUSIONS

The ARMS2 (rs10490924)/HTRA1 (rs11200638) variants are significantly associated with the risk of PCV in a Korean population. ARMS2/HTRA1 variants contribute significantly to the PCV phenotypes, including frequency of VH and mean BCVA at baseline.