Phenotypic characterization of the β3-adrenergic receptor mutation and the uncoupling protein 1 polymorphism in Japanese men

Phenotypic characterization of the β3-adrenergic receptor mutation and the uncoupling protein 1 polymorphism in Japanese men
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DOI:
10.1016/s0026-0495(99)90063-x
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发表时间:
1999-05-01
影响因子:
9.8
通讯作者:
Kobayashi, K
Kobayashi, K
中科院分区:
医学1区
文献类型:
--
作者:
Hayakawa, T;Nagai, Y;Kobayashi, K

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据报道,β 3-肾上腺素能受体(β 3AR)基因的Trp 64 Arg突变和解偶联蛋白1(UCP 1)基因的A至G多态性与体重增加相关,并且两者均显示出对高加索人体重增加的累加效应。在PEAR突变中也注意到了种族差异;然而,UCP 1多态性对体重的影响在日本人中并不明显。因此,我们调查了214名日本男性中β 3AR和UCP 1基因的遗传变异以及这两个基因的加性效应。Trp 64 Arg等位基因频率为0.19,Arg 64纯合子的血清甘油三酯显著高于Trp 64纯合子。G等位基因频率为0.51,具有G等位基因的受试者(GG纯合子和AG杂合子)的体重指数(BMI)显著高于不具有G等位基因的受试者(AA纯合子)。β 3AR基因突变和UCP 1基因多态性与糖耐量和胰岛素抵抗无关,且无累加效应。我们的研究结果表明,β 3AR突变与高脂血症和UCP 1多态性可能是一个弱的贡献因素,肥胖的日本男性。版权所有(C)1999 W.B.桑德斯公司
The Trp64Arg mutation of the beta 3-adrenergic receptor (beta 3AR) gene and A to G polymorphism of the uncoupling protein 1 (UCP1) gene are reported to be associated with weight gain, and both have been shown to have an additive effect on weight gain in Caucasians. Racial differences have also been noted in the PEAR mutation; however, the effect of UCP1 polymorphism on body weight is not obvious in the Japanese. Thus, we investigated the association of genetic variations in beta 3AR and UCP1 genes and the additive effects of these two genes in 214 Japanese men. The frequency of the Trp64Arg allele was 0.19, and serum triglyceride was significantly higher in Arg64 homozygotes versus Trp64 homozygotes, The frequency of the G allele was 0.51, and the body mass index (BMI) was significantly higher in subjects with the G allele (GG homozygotes and AG heterozygotes) versus those without it (AA homozygotes). The beta 3AR mutation and UCP1 polymorphism were not found to have additive effects, and they were not related to glucose tolerance patterns and insulin resistance. Our results suggest that the beta 3AR mutation is associated with hypertriglyceridemia and the UCP1 polymorphism may be a weak contributing factor to obesity in Japanese men. Copyright (C) 1999 by W.B. Saunders Company.