Evidence map›Paper›PMID 34294692›Full record

ArticleNature communications2021

Quantifying the contribution of Neanderthal introgression to the heritability of complex traits.

Evonne McArthur, David C Rinker, John A Capra

Open access · goldAbstract 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 41 papers.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed
79.7field-weighted citation impact, top 1% of its field
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

41 citing papers in PubMed, 79 citations in OpenAlex.

  1. Article
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  12. Review
  13. Archaic hominin admixture and its consequences for modern humans.Current opinion in genetics & development · 2025
    Review
  14. Article
  15. Article
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  19. Denisovan admixture facilitated environmental adaptation in Papua New Guinean populations.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  20. Article
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

3 authors at 2 institutions in 1 country.

Evonne McArthurVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, 37235, USA.ORCID 0000-0003-4566-4321
David C RinkerDepartment of Biological Sciences, Vanderbilt University, Nashville, TN, 37235, USA.ORCID 0000-0001-5894-7633
John A CapraVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, 37235, USA. tony@capralab.org.ORCID 0000-0001-9743-1795
Vanderbilt University · USVanderbilt University Medical Center · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007347 · NIGMS · VANDERBILT UNIVERSITY · PI WILLIAMS, CHRISTOPHER S. · 1985 to 2023
$26.3M
Medical Scientist Training ProgramT32GM152284 · NIGMS · VANDERBILT UNIVERSITY · PI Christopher S. Williams · 2024 to 2026
$4.8M
The Evolution of Gene Regulation and Human DiseaseR35GM127087 · NIGMS · VANDERBILT UNIVERSITY · PI John Anthony Capra · 2018 to 2026
$3.2M
Quantifying the relationship between 3D genome structure and the genetic architecture of common complex diseaseF30HG011200 · NHGRI · VANDERBILT UNIVERSITY · PI MCARTHUR, EVONNE · 2020 to 2022
$108k
NHGRI NIH HHS F30 HG011200NIGMS NIH HHS R35 GM127087NIGMS NIH HHS T32 GM007347NIGMS NIH HHS T32 GM152284
6 · The paper itself

Abstract

Eurasians have ~2% Neanderthal ancestry, but we lack a comprehensive understanding of the genome-wide influence of Neanderthal introgression on modern human diseases and traits. Here, we quantify the contribution of introgressed alleles to the heritability of more than 400 diverse traits. We show that genomic regions in which detectable Neanderthal ancestry remains are depleted of heritability for all traits considered, except those related to skin and hair. Introgressed variants themselves are also depleted for contributions to the heritability of most traits. However, introgressed variants shared across multiple Neanderthal populations are enriched for heritability and have consistent directions of effect on several traits with potential relevance to human adaptation to non-African environments, including hair and skin traits, autoimmunity, chronotype, bone density, lung capacity, and menopause age. Integrating our results, we propose a model in which selection against introgressed functional variation was the dominant trend (especially for cognitive traits); however, for a few traits, introgressed variants provided beneficial variation via uni-directional (e.g., lightening skin color) or bi-directional (e.g., modulating immune response) effects.

Indexed as

Genetic IntrogressionModels, GeneticMultifactorial InheritanceAdaptation, PhysiologicalAllelesAnimalsCognitionFemaleGenetic VariationGenome, HumanGenome-Wide Association StudyHairHumansLinkage DisequilibriumMaleNeanderthals

Identifiers

PMID34294692
PMCPMC8298587
OpenAlexW3185231098

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.