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摘要 : 一项重要的国际研究发现,由来自不同遗传背景的父母所生的孩子往往会比其他人更高,且具有更敏锐的思考能力。相关的研究论文发布在7月1日的《自然》(Nature)杂志上。









爱丁堡大学Usher研究所的Jim Wilson说:“这项研究突显了通过大规模遗传分析来揭示我们进化史基本信息的能力。”

爱丁堡大学Usher研究所的Peter Joshi博士说:“我们的研究解答了达尔文率先提出的关于遗传多样性利益的问题。下一步我们将把注意力放在从遗传多样性中受益最多的基因组特异区域上。”

原文标题:Directional dominance on stature and cognition in diverse human populations

原文摘要:Homozygosity has long been associated with rare, often devastating, Mendelian disorders1, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3, 4. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10−300, 2.1 × 10−6, 2.5 × 10−10 and 1.8 × 10−10, respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months’ less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5, 6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, wheras many important risk factors for late-onset complex diseases may not have been.

来源: Nature 浏览次数:0


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