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Polycystic ovary syndrome is associated with genetic polymorphism in the insulin signaling gene IRS-1 but not ENPP1 in a Japanese population

机译:多囊卵巢综合征与胰岛素信号基因IRS-1的遗传多态性相关,但与日本人群中的ENPP1无关

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(PCOS). We hypothesized that insulin receptor substrate-1 (IRS-1) Gly972Arg polymorphism and/or ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Lysl 2 1 Gln polymorphism predisposes women to PCOS and that these polymorphisms also affect anthropometric variables, glucose metabolism and androgen synthesis. To test those ideas, we studied the genotypes, indexes of insulin resistance, and hormone profiles in 123 Japanese women with PCOS and 3 80 healthy Japanese controls. We found that there were significantly more IRS-1 972Arg carriers among the PCOS patients than among the healthy controls (10.6% vs. 4.8%, p=0.029), which is consistent with our finding that women carrying the IRS-1 972Arg allele had a significantly increased risk of developing PCOS (odds ratio: 3.31, 95% confidence interval: 1.49-7.35). By contrast, the ENPPI Lys121Arg polymorphism was distributed equally among PCOS patients and controls. In addition, neither of these polymorphisms studied affected the anthropometric variables, metabolic parameters or androgen levels of women with PCOS. We conclude that the IRS-1 Gly972Arg polymorphism is associated with PCOS in the Japanese population. (c) 2007 Elsevier Inc. All rights reserved.
机译:(PCOS)。我们假设胰岛素受体底物1(IRS-1)Gly972Arg多态性和/或外核苷酸焦磷酸酶/磷酸二酯酶1(ENPP1)Lysl 2 1 Gln多态性使女性易患PCOS,而且这些多态性还影响人体测量学变量,葡萄糖代谢和雄激素合成。为了验证这些想法,我们研究了123名日本PCOS妇女和3 80名日本健康对照者的基因型,胰岛素抵抗指数和激素谱。我们发现PCOS患者中IRS-1 972Arg携带者的数量明显多于健康对照者(10.6%比4.8%,p = 0.029),这与我们发现携带IRS-1 972Arg等位基因的女性具有罹患PCOS的风险显着增加(赔率:3.31,95%置信区间:1.49-7.35)。相比之下,ENPPI Lys121Arg多态性在PCOS患者和对照中平均分布。此外,研究的这些多态性均未影响PCOS妇女的人体测量学变量,代谢参数或雄激素水平。我们得出的结论是,IRS-1 Gly972Arg多态性与日本人群中的PCOS有关。 (c)2007 Elsevier Inc.保留所有权利。

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