title: A common Ile 823 Met variant of ATP-binding cassette transporter A1 gene (ABCA1) alters high density lipoprotein cholesterol level in Japanese population.
abstract: Recently, variants in ATP-binding cassette transporter A1 (ABCA1) were demonstrated to be associated with increased level of high density lipoprotein cholesterol (HDL-C) and decreased risk of coronary artery disease (CAD) in Caucasians. However, this is not universally applicable due to the ethnic or environmental differences. In this context, to clarify the effect of ABCA1 in Japanese, we evaluated the phenotypic effects of I/M 823 and R/K 219 variants on the plasma level of HDL-C in 410 patients recruited in our hospital. Subjects with M 823 allele had significantly higher level of HDL-C than those without M823 allele (49.0+/-15.1 vs. 44.9+/-11.5 mg/dl, respectively, P<0.05). This statistical significance did not change even after multiple regression analysis. In contrast, there was no difference in HDL-C level among the genotypes in R/K 219 polymorphism. Further, in our study population an inverse relationship was shown to exist between HDL-C level and incidence of CAD. However, no positive association was observed between those variants and susceptibility to CAD. In this study, we provide evidence that I/M 823 variant, not R/K 219 variant, in ABCA1 is one of the determinants of HDL-C level, suggesting the importance of this gene on lipid metabolism in Japanese.
authors.affiliation: Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Harada
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Imai
authors.forename: Takefumi
authors.initials: T
authors.lastname: Nojiri
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Morita
authors.forename: Doubun
authors.initials: D
authors.lastname: Hayashi
authors.forename: Koji
authors.initials: K
authors.lastname: Maemura
authors.forename: Keiko
authors.initials: K
authors.lastname: Fukino
authors.forename: Daiji
authors.initials: D
authors.lastname: Kawanami
authors.forename: Go
authors.initials: G
authors.lastname: Nishimura
authors.forename: Kensuke
authors.initials: K
authors.lastname: Tsushima
authors.forename: Koshiro
authors.initials: K
authors.lastname: Monzen
authors.forename: Tadashi
authors.initials: T
authors.lastname: Yamazaki
authors.forename: Satoshi
authors.initials: S
authors.lastname: Mitsuyama
authors.forename: Takahiko
authors.initials: T
authors.lastname: Shintani
authors.forename: Narimasa
authors.initials: N
authors.lastname: Watanabe
authors.forename: Kumiko
authors.initials: K
authors.lastname: Seto
authors.forename: Takao
authors.initials: T
authors.lastname: Sugiyama
authors.forename: Fumitaka
authors.initials: F
authors.lastname: Nakamura
authors.forename: Minoru
authors.initials: M
authors.lastname: Ohno
authors.forename: Yasunobu
authors.initials: Y
authors.lastname: Hirata
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Yamazaki
authors.forename: Ryozo
authors.initials: R
authors.lastname: Nagai
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D008076:Cholesterol, HDL / Q000097:blood*; D003327:Coronary Disease / Q000208:ethnology / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood / Q000235:genetics; D007564:Japan; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008076:Cholesterol, HDL