Widespread signatures of natural selection across human complex traits and functional genomic categories

Jian Zeng (), Angli Xue, Longda Jiang, Luke R. Lloyd-Jones, Yang Wu, Huanwei Wang, Zhili Zheng, Loic Yengo, Kathryn E. Kemper, Michael E. Goddard, Naomi R. Wray, Peter M. Visscher and Jian Yang ()
Additional contact information
Jian Zeng: The University of Queensland
Angli Xue: The University of Queensland
Longda Jiang: The University of Queensland
Luke R. Lloyd-Jones: The University of Queensland
Yang Wu: The University of Queensland
Huanwei Wang: The University of Queensland
Zhili Zheng: The University of Queensland
Loic Yengo: The University of Queensland
Kathryn E. Kemper: The University of Queensland
Michael E. Goddard: University of Melbourne
Naomi R. Wray: The University of Queensland
Peter M. Visscher: The University of Queensland
Jian Yang: The University of Queensland

Nature Communications, 2021, vol. 12, issue 1, 1-12

Abstract: Abstract Understanding how natural selection has shaped genetic architecture of complex traits is of importance in medical and evolutionary genetics. Bayesian methods have been developed using individual-level GWAS data to estimate multiple genetic architecture parameters including selection signature. Here, we present a method (SBayesS) that only requires GWAS summary statistics. We analyse data for 155 complex traits (n = 27k–547k) and project the estimates onto those obtained from evolutionary simulations. We estimate that, on average across traits, about 1% of human genome sequence are mutational targets with a mean selection coefficient of ~0.001. Common diseases, on average, show a smaller number of mutational targets and have been under stronger selection, compared to other traits. SBayesS analyses incorporating functional annotations reveal that selection signatures vary across genomic regions, among which coding regions have the strongest selection signature and are enriched for both the number of associated variants and the magnitude of effect sizes.

Date: 2021
References: Add references at CitEc
Citations: View citations in EconPapers (3)

Downloads: (external link)
https://www.nature.com/articles/s41467-021-21446-3 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-21446-3

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-021-21446-3

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().