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英国生物库中身高多基因适应信号降低。

Reduced signal for polygenic adaptation of height in UK Biobank.

机构信息

Department of Biological Sciences, Columbia University, New York, United States.

Department of Biology, Stanford University, Stanford, United States.

出版信息

Elife. 2019 Mar 21;8:e39725. doi: 10.7554/eLife.39725.

Abstract

UNLABELLED

Several recent papers have reported strong signals of selection on European polygenic height scores. These analyses used height effect estimates from the GIANT consortium and replication studies. Here, we describe a new analysis based on the the UK Biobank (UKB), a large, independent dataset. We find that the signals of selection using UKB effect estimates are strongly attenuated or absent. We also provide evidence that previous analyses were confounded by population stratification. Therefore, the conclusion of strong polygenic adaptation now lacks support. Moreover, these discrepancies highlight (1) that methods for correcting for population stratification in GWAS may not always be sufficient for polygenic trait analyses, and (2) that claims of differences in polygenic scores between populations should be treated with caution until these issues are better understood.

EDITORIAL NOTE

This article has been through an editorial process in which the authors decide how to respond to the issues raised during peer review. The Reviewing Editor's assessment is that all the issues have been addressed (see decision letter).

摘要

未标记

最近有几篇论文报告了欧洲多基因身高评分上存在强烈选择信号。这些分析使用了 GIANT 联盟的身高效应估计值和复制研究。在这里,我们描述了一项基于英国生物库(UKB)的新分析,这是一个大型的独立数据集。我们发现,使用 UKB 效应估计值的选择信号明显减弱或不存在。我们还提供了证据表明,先前的分析受到了群体分层的混淆。因此,多基因适应的结论现在缺乏支持。此外,这些差异突出表明:(1) 在 GWAS 中纠正群体分层的方法对于多基因性状分析可能并不总是足够的,(2) 在更好地理解这些问题之前,应该谨慎对待群体之间多基因评分差异的说法。

编辑注

本文经过了编辑过程,作者在其中决定如何回应同行评审中提出的问题。审稿人的评估是所有问题都已得到解决(见评审意见信)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7855/6428572/02408de6c0cf/elife-39725-fig1.jpg

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本文引用的文献

1
Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland.
Am J Hum Genet. 2019 Jun 6;104(6):1169-1181. doi: 10.1016/j.ajhg.2019.05.001. Epub 2019 May 30.
3
An evolutionary compass for detecting signals of polygenic selection and mutational bias.
Evol Lett. 2019 Jan 25;3(1):69-79. doi: 10.1002/evl3.97. eCollection 2019 Feb.
4
Detecting Adaptive Differentiation in Structured Populations with Genomic Data and Common Gardens.
Genetics. 2019 Mar;211(3):989-1004. doi: 10.1534/genetics.118.301786. Epub 2019 Jan 24.
5
The UK Biobank resource with deep phenotyping and genomic data.
Nature. 2018 Oct;562(7726):203-209. doi: 10.1038/s41586-018-0579-z. Epub 2018 Oct 10.
6
Mixed-model association for biobank-scale datasets.
Nat Genet. 2018 Jul;50(7):906-908. doi: 10.1038/s41588-018-0144-6.
7
Global genetic differentiation of complex traits shaped by natural selection in humans.
Nat Commun. 2018 May 14;9(1):1865. doi: 10.1038/s41467-018-04191-y.
8
Tread Lightly Interpreting Polygenic Tests of Selection.
Genetics. 2018 Apr;208(4):1351-1355. doi: 10.1534/genetics.118.300786.
9
Detecting Polygenic Adaptation in Admixture Graphs.
Genetics. 2018 Apr;208(4):1565-1584. doi: 10.1534/genetics.117.300489. Epub 2018 Jan 18.
10
glactools: a command-line toolset for the management of genotype likelihoods and allele counts.
Bioinformatics. 2018 Apr 15;34(8):1398-1400. doi: 10.1093/bioinformatics/btx749.

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