Global genetic differentiation of complex traits shaped by natural selection in humans

Nature Communications
Jing GuoJian Yang

Abstract

There are mean differences in complex traits among global human populations. We hypothesize that part of the phenotypic differentiation is due to natural selection. To address this hypothesis, we assess the differentiation in allele frequencies of trait-associated SNPs among African, Eastern Asian, and European populations for ten complex traits using data of large sample size (up to ~405,000). We show that SNPs associated with height ([Formula: see text]), waist-to-hip ratio ([Formula: see text]), and schizophrenia ([Formula: see text]) are significantly more differentiated among populations than matched "control" SNPs, suggesting that these trait-associated SNPs have undergone natural selection. We further find that SNPs associated with height ([Formula: see text]) and schizophrenia ([Formula: see text]) show significantly higher variance in linkage disequilibrium (LD) scores across populations than control SNPs. Our results support the hypothesis that natural selection has shaped the genetic differentiation of complex traits, such as height and schizophrenia, among worldwide populations.

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Citations

Aug 24, 2019·Current Osteoporosis Reports·Pushpanathan Muthuirulan, Terence D Capellini
Sep 11, 2019·Proceedings of the National Academy of Sciences of the United States of America·Ruidong XiangMichael E Goddard
Dec 21, 2019·PLoS Genetics·Margaux-Alison FustierMaud I Tenaillon
May 29, 2020·Proceedings of the National Academy of Sciences of the United States of America·Hideo MatsumuraCheng-Ruei Lee
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May 12, 2021·Royal Society Open Science·Claudia A MartinLewis G Spurgin
Jul 17, 2021·European Journal of Human Genetics : EJHG·Minhui Chen, Charleston W K Chiang
Aug 1, 2021·American Journal of Human Genetics·Iain Mathieson
Aug 24, 2021·Frontiers in Genetics·Evan K Irving-PeaseFernando Racimo

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Software Mentioned

fTIA
PLINK
SLiM
GERA
GCTA
1000G

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