The phenotypic legacy of admixture between modern humans and Neandertals.

Bibliographic Collection: 
APE, CARTA-Inspired Publication
Publication Type: Journal Article
Authors: Simonti, Corinne N; Vernot, Benjamin; Bastarache, Lisa; Bottinger, Erwin; Carrell, David S; Chisholm, Rex L; Crosslin, David R; Hebbring, Scott J; Jarvik, Gail P; Kullo, Iftikhar J; Li, Rongling; Pathak, Jyotishman; Ritchie, Marylyn D; Roden, Dan M; Verma, Shefali S; Tromp, Gerard; Prato, Jeffrey D; Bush, William S; Akey, Joshua M; Denny, Joshua C; Capra, John A
Year of Publication: 2016
Journal: Science
Volume: 351
Issue: 6274
Pagination: 737-41
Date Published: 2016 Feb 12
Publication Language: eng
ISSN: 1095-9203
Keywords: Alleles, Animals, Depression, Disease, European Continental Ancestry Group, Evolution, Molecular, Genetic Variation, Genome, Human, Haplotypes, Humans, Keratosis, Actinic, Neanderthals, Phenotype

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.

DOI: 10.1126/science.aad2149
Alternate Journal: Science
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