Genetics
CETP variant rs3764261 raises the risk of polypoidal choroidal vasculopathy in a Japanese population (Invest Ophthalmol Vis Sci 2013)
Original title: Association between the cholesteryl ester transfer protein gene and polypoidal choroidal vasculopathy
This study tested whether genetic variants in lipid-associated genes are related to polypoidal choroidal vasculopathy (PCV) risk in five hundred eighty-one Japanese patients with PCV and 793 controls, examining three HDL-cholesterol-associated SNPs: LIPC rs493258, CETP rs3764261, and LPL rs12678919, with an adjusted model accounting for ARMS2 A69S, CFH I62V, age, sex, and smoking status. CETP rs3764261 was significantly associated with PCV development, with the minor A allele more frequent in PCV cases (24.0%) than controls (18.5%, P=0.0025, OR 1.41, 95% CI 1.13-1.75), and this association remained significant after adjusting for other covariates (P=0.0013, OR 1.50). LIPC rs493258 and LPL rs12678919 showed no significant association with PCV (both P greater than 0.05). The authors conclude CETP variants are associated with increased risk of developing PCV in the Japanese population.
Original abstract
Purpose: 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.
Methods: 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.
Results: 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).
Conclusion: CETP variants are associated a risk of developing PCV among the Japanese population.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.