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


CONCLUSIONS
CETP variants are associated a risk of developing PCV among the Japanese population.
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Isao
I
Nakata
Kenji
K
Yamashiro
Takahisa
T
Kawaguchi
Norimoto
N
Gotoh
Hideo
H
Nakanishi
Yumiko
Y
Akagi-Kurashige
Masahiro
M
Miyake
Akitaka
A
Tsujikawa
Akio
A
Oishi
Masaaki
M
Saito
Tomohiro
T
Iida
Ryo
R
Yamada
Fumihiko
F
Matsuda
Nagahisa
N
Yoshimura
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D053480:Cholesterol Ester Transfer Proteins / Q000235:genetics* / Q000378:metabolism; D020256:Choroidal Neovascularization / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004247:DNA / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D041623:Tomography, Optical Coherence
C506642:CETP protein, human; D053480:Cholesterol Ester Transfer Proteins; D004247:DNA
CETP; PCV; case-control study; lipid