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首页> 外文期刊>Human Molecular Genetics >Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study.
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Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study.

机译:常见的遗传变异是更年期早期的重要危险因素:突破世代研究的结果。

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Women become infertile approximately 10 years before menopause, and as more women delay childbirth into their 30s, the number of women who experience infertility is likely to increase. Tests that predict the timing of menopause would allow women to make informed reproductive decisions. Current predictors are only effective just prior to menopause, and there are no long-range indicators. Age at menopause and early menopause (EM) are highly heritable, suggesting a genetic aetiology. Recent genome-wide scans have identified four loci associated with variation in the age of normal menopause (40-60 years). We aimed to determine whether theses loci are also risk factors for EM. We tested the four menopause-associated genetic variants in a cohort of approximately 2000 women with menopause
机译:妇女在绝经前约10年变得不育,并且随着越来越多的妇女将分娩推迟到30多岁,经历不育的妇女人数可能会增加。预测更年期时机的测试将使女性做出明智的生殖决策。当前的预测指标仅在绝经前才有效,并且没有长期指标。更年期和更年期的早期(EM)高度可遗传,提示遗传病因。最近的全基因组扫描已经确定了四个与正常绝经年龄(40-60岁)变化相关的基因座。我们旨在确定这些基因位是否也是EM的危险因素。我们通过突破代研究(BGS)在约2000名绝经年龄为45岁的女性队列中测试了这4种绝经相关的遗传变异。所有这四个变体显着增加了患EM的几率。比较风险等位基因数量最少(两个或三个)的4.5%个体与风险最高等位基因数量八个(八个风险等位基因)的3.0%相比,优势比为4.1(95%CI 2.4-7.1,P = 4.0x10( -7))。结合起来,这四个变体以0.6以下的曲线区分了接收器操作员特征区域的EM情况。通过全基因组关联研究确定的四种常见遗传变异,对来自BGS的独立队列中发生EM的几率产生了重大影响。判别力仍然有限,但是随着发现更多变体,它们可能对预测生殖寿命有用。

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