CFH and HTRA1 Gene Polymorphisms Correlate With Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy but Not Heterogeneity in Their Clinical Characteristics in a Native Japanese Population

Abstract

Purpose: : We recently reported association of CFH and HTRA1 gene polymorphisms with age-related macular degeneration (AMD) in a native Japanese population (Mori K, et al, J Hum Genet 2007; Invest Ophthalmol Vis Sci 2007). The present study is designed to test for potential association between these SNPs and polypoidal choroidal vasculopathy (PCV) in the same population. AMD and PCV are distinguished by clinical findings including lesion size, macular thickness and presence of pigment epithelial detachment and/or drusen. This study also examines the study group for association between the studied SNPs and heterogeneity in these clinical characteristics.

Methods: : The case control samples were composed of 177 cases with AMD, 71 cases with PCV and 142 controls without AMD or PCV. Three SNPs (rs2274700, rs1410996, rs800292) in the CFH gene and a SNP (rs11200638) in the HTRA1 gene were assessed using a TaqMan assay.

Results: : Three SNPs in the CFH gene were associated with a significant risk of developing PCV in this Japanese population (rs800292, p=2.51x10^-2, OR(95%CI); 1.67(1.06-2.61), rs1410996, p=8.79x10^-3, 1.79(1.16-2.78), rs2274700, p=1.07x10^-2, 1.77(1.14-2.74)). Significant association was also noted between an HTRA1 variant (rs11200638) and PCV (p=2.94x10^-3, OR(95%CI); 1.63(1.05-2.52)). None of the studied SNPs was significantly associated with heterogeneity in the clinical characteristic examined.

Conclusions: : Three variants (rs2274700, rs1410996, rs800292) in the CFH gene and a rs11200638 HTRA1 promoter variant are associated with PCV in the Japanese population. However, no SNP tested accounted for differing clinical characteristics of AMD and PCV.

Keywords: age-related macular degeneration • gene screening • drusen