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Isao Nakata, Kenji Yamashiro, Takahisa Kawaguchi, Norimoto Gotoh, Hideo Nakanishi, Yumiko Akagi-Kurashige, Masahiro Miyake, Akitaka Tsujikawa, Akio Oishi, Masaaki Saito, Tomohiro Iida, Ryo Yamada, Fumihiko Matsuda, Nagahisa Yoshimura; Association Between the Cholesteryl Ester Transfer Protein Gene and Polypoidal Choroidal Vasculopathy. Invest. Ophthalmol. Vis. Sci. 2013;54(9):6068-6073. doi: 10.1167/iovs.13-11605.
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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.
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