Association Between HTRA1 Promoter Polymorphism and Polypoidal Choroidal Vasculopathy

Abstract

Purpose:: To study preliminarily whether association is found between HTRA1 promoter polymorphism and polypoidal choroidal vasculopathy (PCV) in unrelated Japanese patients, as an usual phenotype of wet age-related macular degeneration (AMD) in Asians.

Methods:: Ninty-six patients with PCV and 95 pupulation-based control were recruited. All the cases were recuited at Center for Macular Diseases of Kyoto University Hospital. Total 382 chromosomes were resequenced for rs11200638(G/A); A as risk allele, DeWan et al. and Yang et al. (Science 2006) were reported with samples of wet AMD excluding PCV.

Results:: Minor allele frequnecy of A was 0.368 in controls versus 0.612 in PCV. Japanese PCV samples had association in allele frequencies, p=2.2x10^-6 and odds ratio 2.70 (1.78-4.09: 95%CI).

Conclusions:: Association between rs1200638 and PCV was suggested in this relatively small cohort.

Keywords: age-related macular degeneration • candidate gene analysis • genetics