Association between the cholesteryl ester transfer protein gene and polypoidal choroidal vasculopathy

To determine whether genetic variants in the lipid-associated genes are related to the risk of developing polypoidal choroidal vasculopathy (PCV) in a Japanese population.

Five hundred eighty-one patients with PCV and 793 controls were enrolled in the study. Association analysis of allele and genotype frequencies was performed for the following single-nucleotide polymorphisms (SNPs) that are associated with high-density lipoprotein cholesterol levels in blood: rs493258 at the hepatic lipase gene (LIPC), rs3764261 at the cholesteryl ester transfer protein gene (CETP), and rs12678919 at the lipoprotein lipase gene (LPL). A further model adjusting for age-related maculopathy susceptibility 2 (ARMS2) A69S, complement factor H (CFH) I62V, age, sex, and smoking status was used to confirm the independent association of these SNPs with other covariates.

CETP rs3764261 was significantly associated with the development of PCV; the frequency of the minor allele A was higher in the PCV cases (24.0%) than in the control subjects (18.5%) (P = 0.0025; odds ratio [OR], 1.41; 95% confidence interval, 1.13-1.75). Furthermore, we found an independent association of CETP variants with age, sex, smoking status, and genetic background of ARMS2 A69S, CFH I62V, LIPC rs493258, and LPL rs12678919 (P = 0.0013; OR, 1.50). LIPC rs493258 and LPL rs12678919 did not show significant associations with the development of PCV (P > 0.05).

CETP variants are associated a risk of developing PCV among the Japanese population.