Evidence map›Paper›PMID 33608517›Full record

ArticleNature communications2021

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 and 3 more

Abstract read
In one paragraph

Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
104citing papers in PubMed, 6 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

104 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
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  7. Article
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  9. Review
  10. Genetic architectures of brain-related traits are shaped by strong selective constraints.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  11. Article
  12. Article
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  14. Article
  15. Nucleotide diversity is a poor predictor of short-term adaptive potential.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  16. Article
  17. Type 2 diabetes genetics in 125,000 admixed adults from Mexico City.medRxiv : the preprint server for health sciences · 2026
    Article
  18. Article
  19. Article
  20. Article

44 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Jian ZengInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia. j.zeng@uq.edu.au.
Angli XueInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.
Longda JiangInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.
Luke R Lloyd-JonesInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.ORCID 0000-0002-0229-0625
Yang WuInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.ORCID 0000-0002-0128-7280
Huanwei WangInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.ORCID 0000-0002-6137-3391
Zhili ZhengInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.
Loic YengoInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.ORCID 0000-0002-4272-9305
Kathryn E KemperInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.
Michael E GoddardFaculty of Veterinary and Agricultural Science, University of Melbourne, Parkville, VIC, Australia.
Naomi R WrayInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.ORCID 0000-0001-7421-3357
Peter M VisscherInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.ORCID 0000-0002-2143-8760
Jian YangInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia. jian.yang@westlake.edu.cn.ORCID 0000-0003-2001-2474

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

GenomeBayes TheoremEvolution, MolecularGenetic VariationGenome-Wide Association StudyGenomicsHumansModels, BiologicalMultifactorial InheritancePhenotypePolymorphism, Single NucleotideSelection, Genetic

Identifiers

PMID33608517
PMCPMC7896067

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.