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量化人类身高和体重指数的大陆人群间遗传异质性。

Quantifying genetic heterogeneity between continental populations for human height and body mass index.

机构信息

Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.

Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.

出版信息

Sci Rep. 2021 Mar 4;11(1):5240. doi: 10.1038/s41598-021-84739-z.

DOI:10.1038/s41598-021-84739-z
PMID:33664403
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7933291/
Abstract

Genome-wide association studies (GWAS) in samples of European ancestry have identified thousands of genetic variants associated with complex traits in humans. However, it remains largely unclear whether these associations can be used in non-European populations. Here, we seek to quantify the proportion of genetic variation for a complex trait shared between continental populations. We estimated the between-population correlation of genetic effects at all SNPs ([Formula: see text]) or genome-wide significant SNPs ([Formula: see text]) for height and body mass index (BMI) in samples of European (EUR; [Formula: see text]) and African (AFR; [Formula: see text]) ancestry. The [Formula: see text] between EUR and AFR was 0.75 ([Formula: see text]) for height and 0.68 ([Formula: see text]) for BMI, and the corresponding [Formula: see text] was 0.82 ([Formula: see text]) for height and 0.87 ([Formula: see text]) for BMI, suggesting that a large proportion of GWAS findings discovered in Europeans are likely applicable to non-Europeans for height and BMI. There was no evidence that [Formula: see text] differs in SNP groups with different levels of between-population difference in allele frequency or linkage disequilibrium, which, however, can be due to the lack of power.

摘要

全基因组关联研究(GWAS)在欧洲血统的样本中发现了数千种与人类复杂特征相关的遗传变异。然而,这些关联是否可以在非欧洲人群中使用,在很大程度上仍不清楚。在这里,我们试图量化大陆人群之间复杂特征遗传变异的比例。我们估计了身高和体重指数(BMI)在欧洲(EUR;[Formula: see text])和非洲(AFR;[Formula: see text])血统样本中所有 SNP([Formula: see text])或全基因组显著 SNP([Formula: see text])的遗传效应在人群之间的相关性。EUR 和 AFR 之间的[Formula: see text]为身高的 0.75([Formula: see text])和 BMI 的 0.68([Formula: see text]),相应的[Formula: see text]为身高的 0.82([Formula: see text])和 BMI 的 0.87([Formula: see text]),这表明在欧洲人中发现的大量 GWAS 结果很可能适用于身高和 BMI 的非欧洲人。没有证据表明[Formula: see text]在等位基因频率或连锁不平衡的人群之间差异不同的 SNP 组中存在差异,然而,这可能是由于缺乏效力。

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