The phenotypic legacy of admixture between modern humans and Neandertals | Zendy

Corinne Simonti | Zendy; Benjamin Vernot | Zendy; Lisa Bastarache | Zendy; Erwin P. Böttinger | Zendy; David Carrell | Zendy; Rex L. Chisholm | Zendy; David R. Crosslin | Zendy; Scott J. Hebbring | Zendy; Gail P. Jarvik | Zendy; Iftikhar J. Kullo | Zendy; Rongling Li | Zendy; Jyotishman Pathak | Zendy; Marylyn D. Ritchie | Zendy; Dan M. Roden | Zendy; Shefali S. Verma | Zendy; Gerard Tromp | Zendy; Jeffrey D. Prato | Zendy; William S. Bush | Zendy; Joshua M. Akey | Zendy; Joshua C. Denny | Zendy; John A. Capra | Zendy

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The phenotypic legacy of admixture between modern humans and Neandertals

Author(s) -

Corinne Simonti,

Benjamin Vernot,

Lisa Bastarache,

Erwin P. Böttinger,

David Carrell,

Rex L. Chisholm,

David R. Crosslin,

Scott J. Hebbring,

Gail P. Jarvik,

Iftikhar J. Kullo,

Rongling Li,

Jyotishman Pathak,

Marylyn D. Ritchie,

Dan M. Roden,

Shefali S. Verma,

Gerard Tromp,

Jeffrey D. Prato,

William S. Bush,

Joshua M. Akey,

Joshua C. Denny,

John A. Capra

Publication year - 2016

Publication title -

science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 12.556

H-Index - 1186

eISSN - 1095-9203

pISSN - 0036-8075

DOI - 10.1126/science.aad2149

Subject(s) - genotyping , biology , allele , genetic genealogy , phenotype , evolutionary biology , genome , genetics , human genome , genetic data , genotype , gene , demography , population , sociology

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.

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