Science· 2016Q1
The phenotypic legacy of admixture between modern humans and Neandertals
- 368citations
- Q1SCImago
- 2016year
Short summary
Neandertal DNA variants are associated with increased risk for depression, sun-induced skin lesions, hypercoagulation, and tobacco use in modern humans of European ancestry.
AI-generated from the title and abstract; the full text is not read.
Key points
- Neandertal alleles are associated with neurological, psychiatric, immunological, and dermatological phenotypes in modern humans.
- Neandertal variants explain a significant fraction of variation in depression risk.
- Neandertal alleles are linked to increased risk of sun-induced skin lesions (actinic keratosis).
- Specific Neandertal alleles are associated with hypercoagulation and tobacco use.
AI-generated from the title and abstract; the full text is not read.
Abstract
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.
The authors' abstract, as published at the source. Science, 2016 · DOI ↗
Continue with a free account
Ask the paper: 3 free questions a day about this paper; save it, get its citation, new summaries every day for your field. Takeaways are Premium.
Continue free on the webSign in with Google or Apple; no card needed. You come back to this paper.
On your phone:
Field: Archeology (Arts and Humanities)
ArcheologyArts and Humanities