Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan

American Journal of Human Genetics
Minhui ChenCharleston Wk Chiang

Abstract

Adult height is one of the earliest putative examples of polygenic adaptation in humans. However, this conclusion was recently challenged because residual uncorrected stratification from large-scale consortium studies was considered responsible for the previously noted genetic difference. It thus remains an open question whether height loci exhibit signals of polygenic adaptation in any human population. We re-examined this question, focusing on one of the shortest European populations, the Sardinians, in addition to mainland European populations. We utilized height-associated loci from the Biobank Japan (BBJ) dataset to further alleviate concerns of biased ascertainment of GWAS loci and showed that the Sardinians remain significantly shorter than expected under neutrality (∼0.22 standard deviation shorter than Utah residents with ancestry from northern and western Europe [CEU] on the basis of polygenic height scores, p = 3.89 × 10-4). We also found the trajectory of polygenic height scores between the Sardinian and the British populations diverged over at least the last 10,000 years (p = 0.0082), consistent with a signature of polygenic adaptation driven primarily by the Sardinian population. Although the polygenic score-based...Continue Reading

Citations

Mar 14, 2021·American Journal of Human Genetics·Mariaelisa GraffKari E North
Apr 27, 2021·Human Genetics·Mariko IsshikiJun Ohashi
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
Dec 12, 2021·Genome Biology and Evolution·Mashaal SohailDiego Ortega-Del Vecchyo

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