Evidence map›Paper›PMID 34493869›Full record

ArticleNature genetics2021

Sex differences in genetic architecture in the UK Biobank.

Elena Bernabeu, Oriol Canela-Xandri, Konrad Rawlik, Andrea Talenti, James Prendergast, Albert Tenesa

Abstract read
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In one paragraph

Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
110citing papers in PubMed, 4 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

110 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Pooled it
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  14. Chromosome-specific drift under stabilizing selection generates polygenic barriers to sex chromosome turnover.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  15. Article
  16. Sex and the Developmental Environment Shape Molecular Networks Underlying Bronchial Responsiveness in Mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026
    Article
  17. Article
  18. Article
  19. Personality Genomics.Annual review of psychology · 2026
    Review
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Elena BernabeuThe Roslin Institute, Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush Campus, Midlothian, UK.ORCID http://orcid.org/0000-0002-5848-5720
Oriol Canela-XandriInstitute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.ORCID http://orcid.org/0000-0003-4601-6289
Konrad RawlikThe Roslin Institute, Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush Campus, Midlothian, UK.ORCID http://orcid.org/0000-0002-0010-370X
Andrea TalentiThe Roslin Institute, Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush Campus, Midlothian, UK.ORCID http://orcid.org/0000-0003-1309-3667
James PrendergastThe Roslin Institute, Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush Campus, Midlothian, UK.ORCID http://orcid.org/0000-0001-8916-018X
Albert TenesaThe Roslin Institute, Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush Campus, Midlothian, UK. Albert.Tenesa@ed.ac.uk.ORCID http://orcid.org/0000-0003-4884-4475

Funding

Biotechnology and Biological Sciences Research Council BBS/E/D/10002070Biotechnology and Biological Sciences Research Council BBS/E/D/30002275Biotechnology and Biological Sciences Research Council BBS/E/D/30002276Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/N003179/1Medical Research Council MR/P015514/1Medical Research Council MR/R025851/1
6 · The paper itself

Abstract

Males and females present differences in complex traits and in the risk of a wide array of diseases. Genotype by sex (GxS) interactions are thought to account for some of these differences. However, the extent and basis of GxS are poorly understood. In the present study, we provide insights into both the scope and the mechanism of GxS across the genome of about 450,000 individuals of European ancestry and 530 complex traits in the UK Biobank. We found small yet widespread differences in genetic architecture across traits. We also found that, in some cases, sex-agnostic analyses may be missing trait-associated loci and looked into possible improvements in the prediction of high-level phenotypes. Finally, we studied the potential functional role of the differences observed through sex-biased gene expression and gene-level analyses. Our results suggest the need to consider sex-aware analyses for future studies to shed light onto possible sex-specific molecular mechanisms.

Indexed as

Quantitative Trait, HeritableSex CharacteristicsBiological Specimen BanksFemaleGene Expression RegulationGenotypeHumansMaleMultifactorial InheritancePolymorphism, Single NucleotideQuantitative Trait LociSex FactorsUnited Kingdom

Identifiers

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.