Strong Linkage Disequilibrium and Association of -1131T>C and c.553G>T Polymorphisms of the Apolipoprotein A5 Gene With Hypertriglyceridemia in a Japanese Population
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概要
- 論文の詳細を見る
Background The apolipoprotein A5 gene (ApoA5) plays an important role in modulating triglyceride metabolism. Polymorphisms of ApoA5, including -1131T>C and c.553G>T (G185C), have been reported to correlate with hypertriglyceridemia (HTG). In the present study the relationships of 5 single nucleotide polymorphisms, including the -1131T>C, c.56C>G, IVS3+476G>A, c.553G>T, and c.1259T>C polymorphisms of ApoA5, with HTG were investigated. Methods and Results The study group comprised 95 Japanese patients with HTG and 119 unrelated normolipidemic subjects. Frequencies of the C allele of-1131T>C (0.511) and the T allele of c.553G>T (0.205) in the hypertriglyceridemic patients were significantly higher than in the normolipidemic subjects (0.315 and 0.105, respectively). The c.56C>G (S19W) polymorphism was not observed, and the other 4 polymorphic sites were in strong linkage disequilibrium. Five of the 8 detected haplotypes with the C allele of-1131T>C correlated with HTG. Promoter activities of ApoA5, including that with the -1131T>C polymorphism, were estimated using a luciferase assay. Analysis of ApoA5 promoters showed that the -1131T>C polymorphism alone had no effect. Comparison of expression of mutant G185C and wild-type ApoA5-green fluorescent protein (GFP) in HepG2 cells showed that ApoA5-GFP was abundant in punctate endosome-like structures, and ApoA5 (G185Q-GFP expression resembled that of the wild type. Conclusions The -1131T>C and c.553G>T (G185C) polymorphisms correlated with HTG in this Japanese population, but neither polymorphism directly affected ApoA5 expression.
- 2007-04-20
著者
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ZHANG Bo
Department of Cardiology, Fukuoka University Hospital
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SAKU Keijiro
Department of Cardiology, Fukuoka University Hospital
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Zhang Bo
Department Of Cardiology Faculty Of Medicine Fukuoka University
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Saku Keijiro
Department Of Cardiology Fukuoka University Faculty Of Medicine
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Matsunaga Akira
Department Of Cardiology Fukuoka University
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Matsunaga Akira
Department Of Anesthesiology And Critical Care Medicine Kagoshima University Graduate School Of Medi
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UEHARA Yoshinari
Department of Cardiology, Fukuoka University School of Medicine
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Niimura Hideya
Department of Cardiology, Fukuoka University School of Medicine
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Nakashima Hideko
Heart Rhythm Center Fukuoka Sanno Hospital
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Ohwaki Kazuo
Department of Cardiology, Saiseikai Fukuoka General Hospital
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Arishima Hiroaki
Department of Cardiology, Fukuoka University School of Medicine
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Morita Mie
Department of Cardiology, Fukuoka University School of Medicine
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Hayashida Kazue
Department of Cardiology, Fukuoka University School of Medicine
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Matsumori Akira
Department Of Cardiovascular Medicine Kyoto University Graduate Shool Of Medicine
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Morita Mie
Department Of Cardiology Fukuoka University School Of Medicine
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Ohwaki Kazuo
Department Of Cardiology Fukuoka University School Of Medicine
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Uehara Yoshinari
Department Of Cardiology Fukuoka University Faculty Of Medicine
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Arishima Hiroaki
Department Of Cardiology Fukuoka University School Of Medicine
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Nakajima Hideko
Department Of Cardiovascular Diseases Fukuoka University Chikushi Hospital
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Saku Keijiro
Department Of Cardiology Faculty Of Medicine Fukuoka University
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Arishima Hiroaki
Department Of Cardiology Faculty Of Medicine Fukuoka University
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Ohwaki Kazuo
Department Of Cardiology Faculty Of Medicine Fukuoka University
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Hayashida Kazue
Department Of Laboratory Medicine Faculty Of Medicine Fukuoka University
-
Zang Bo
Department Of Cardiology Fukuoka University School Of Medicine
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Zhang Bo
Department Of Biochemistry Fukuoka University School Of Medicine
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