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首页> 外文期刊>European journal of human genetics: EJHG >The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature.
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The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature.

机译:GHR和IGF1基因在非洲矮小矮个子的遗传测定中的作用。

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摘要

African pygmies are at the lower extreme of human variation in adult stature and many evolutionary hypotheses have been proposed to explain this phenotype. We showed in a recent study that the difference in average stature of about 10 cm observed between contemporary pygmies and neighboring non-pygmies has a genetic component. Nevertheless, the genetic basis of African pygmies' short stature remains unknown. Using a candidate-gene approach, we show that intronic polymorphisms in GH receptor (GHR) and insulin-like growth factor 1 (IGF1) genes present outlying values of the genetic distance between Baka pygmies and their non-pygmy Nzimé neighbors. We further show that GHR and IGF1 genes have experienced divergent natural selection pressures between pygmies and non-pygmies throughout evolution. In addition, these SNPs are associated with stature in a sample composed of 60 pygmies and 30 non-pygmies and this association remains significant when correcting for population structure for the GHR locus. We conclude that the GHR and IGF1 genes may have a role in African pygmies' short stature. The use of phenotypically contrasted populations is a promising strategy to identify new variants associated with complex traits in humans.
机译:非洲侏儒处于人类成年身材变异的最低端,并且提出了许多进化假设来解释这种表型。我们在最近的一项研究中表明,当代侏儒和邻近的非侏儒之间的平均身高差异约为10厘米,这是遗传因素造成的。然而,非洲侏儒矮小的遗传基础仍然未知。使用候选基因方法,我们显示GH受体(GHR)和胰岛素样生长因子1(IGF1)基因的内含子多态性显示了巴卡格米人与非py格米人Nzimé邻居之间遗传距离的外在值。我们进一步表明,在整个进化过程中,GHR和IGF1基因在侏儒和非侏儒之间经历了不同的自然选择压力。此外,在由60个with格小人和30个非-格小人组成的样本中,这些SNP与身材相关,在校正GHR位点的种群结构时,这种关联仍然很重要。我们得出的结论是,GHR和IGF1基因可能在非洲侏儒矮个子中起作用。表型上有差异的人群的使用是一种有前途的策略,可用于识别与人类复杂性状相关的新变异。

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