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The phenotypic legacy of admixture between modern humans and Neandertals

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  • The phenotypic legacy of admixture between modern humans and Neandertals

    The phenotypic legacy of admixture between modern humans and Neandertals
    open access
    Corinne N. Simonti1, Benjamin Vernot2, Lisa Bastarache3, Erwin Bottinger4, David S. Carrell5, Rex L. Chisholm6, David R. Crosslin2,5, Scott J. Hebbring7, Gail P. Jarvik2,5, Iftikhar J. Kullo8, Rongling Li9, Jyotishman Pathak10,*, Marylyn D. Ritchie11,12, Dan M. Roden1,3,13,14, Shefali S. Verma11, Gerard Tromp15,16, Jeffrey D. Prato3, William S. Bush17, Joshua M. Akey2,†, Joshua C. Denny1,3,13,†, John A. Capra1,3,18,19,‡
    + Author Affiliations
    ↵‡Corresponding author. E-mail:
    ↵* These authors contributed equally to this work.
    † Department of Healthcare Policy and Research, Weill Cornell Medical College, New York, NY, USA.
    Science 12 Feb 2016:
    Vol. 351, Issue 6274, pp. 737-741
    DOI: 10.1126/science.aad2149

    The legacy of human-Neandertal interbreeding

    Non-African humans are estimated to have inherited on average 1.5 to 4% of their genomes from Neandertals. However, how this genetic legacy affects human traits is unknown. Simonti et al. combined genotyping data with electronic health records. Individual Neandertal alleles were correlated with clinically relevant phenotypes in individuals of European descent. These archaic genetic variants were associated with medical conditions affecting the skin, the blood, and the risk of depression.

    Science, this issue p. 737

    Many modern human genomes retain DNA inherited from interbreeding with archaic hominins, such as Neandertals, yet the influence of this admixture on human traits is largely unknown. We analyzed the contribution of common Neandertal variants to over 1000 electronic health record (EHR)–derived phenotypes in ~28,000 adults of European ancestry. We discovered and replicated associations of Neandertal alleles with neurological, psychiatric, immunological, and dermatological phenotypes. Neandertal alleles together explained a significant fraction of the variation in risk for depression and skin lesions resulting from sun exposure (actinic keratosis), and individual Neandertal alleles were significantly associated with specific human phenotypes, including hypercoagulation and tobacco use. Our results establish that archaic admixture influences disease risk in modern humans, provide hypotheses about the effects of hundreds of Neandertal haplotypes, and demonstrate the utility of EHR data in evolutionary analyses.