ArticleBMC biology2022
Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations.
Article in BMC biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 29 citations in OpenAlex.
- Comparing Neanderthal Introgression Maps Reveals Core Agreement But Substantial Heterogeneity.Molecular biology and evolution · 2026Article
- Comparing Neanderthal introgression maps reveals core agreement but substantial heterogeneity.bioRxiv : the preprint server for biology · 2025Article
- Archaic hominin admixture and its consequences for modern humans.Current opinion in genetics & development · 2025Review
- Adaptive introgression in modern human circadian rhythm genes.Npj biological timing and sleep · 2025Article
- Computational Genomics and Its Applications to Anthropological Questions.American journal of biological anthropology · 2024Review
- AncestryGrapher toolkit: Python command-line pipelines to visualize global- and local- ancestry inferences from the RFMIX version 2 software.Bioinformatics (Oxford, England) · 2024Article
- Denisovan admixture facilitated environmental adaptation in Papua New Guinean populations.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Population genetic admixture and evolutionary history in the Shandong Peninsula inferred from integrative modern and ancient genomic resources.BMC genomics · 2024Article
- Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.Human genomics · 2024Article
- Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent.Human genomics · 2023Article
- Review
- Functional and molecular characterization of suicidality factors using phenotypic and genome-wide data.Molecular psychiatry · 2023Article
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Authors and funding
8 authors at 2 institutions in 3 countries.
Funding
Abstract
backgroundIntrogression from extinct Neanderthal and Denisovan human species has been shown to contribute to the genetic pool of modern human populations and their phenotypic spectrum. Evidence of how Neanderthal introgression shaped the genetics of human traits and diseases has been extensively studied in populations of European descent, with signatures of admixture reported for instance in genes associated with pigmentation, immunity, and metabolic traits. However, limited information is currently available about the impact of archaic introgression on other ancestry groups. Additionally, to date, no study has been conducted with respect to the impact of Denisovan introgression on the health and disease of modern populations. Here, we compare the way evolutionary pressures shaped the genetics of complex traits in East Asian and European populations, and provide evidence of the impact of Denisovan introgression on the health of East Asian and Central/South Asian populations.
resultsLeveraging genome-wide association statistics from the Biobank Japan and UK Biobank, we assessed whether Denisovan and Neanderthal introgression together with other evolutionary genomic signatures were enriched for the heritability of physiological and pathological conditions in populations of East Asian and European descent. In EAS, Denisovan-introgressed loci were enriched for coronary artery disease heritability (1.69-fold enrichment, p=0.003). No enrichment for archaic introgression was observed in EUR. We also performed a phenome-wide association study of Denisovan and Neanderthal alleles in six ancestry groups available in the UK Biobank. In EAS, the Denisovan-introgressed SNP rs62391664 in the major histocompatibility complex region was associated with albumin/globulin ratio (beta=-0.17, p=3.57×10
conclusionsOur study provides novel evidence regarding the impact of archaic introgression on the genetics of complex traits in worldwide populations, highlighting the specific contribution of Denisovan introgression in EAS populations.
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