Quantifying the contribution of Neanderthal introgression to the heritability of complex traits.
Nat Commun
; 12(1): 4481, 2021 07 22.
Article
em En
| MEDLINE
| ID: mdl-34294692
ABSTRACT
Eurasians have ~2% Neanderthal ancestry, but we lack a comprehensive understanding of the genome-wide influence of Neanderthal introgression on modern human diseases and traits. Here, we quantify the contribution of introgressed alleles to the heritability of more than 400 diverse traits. We show that genomic regions in which detectable Neanderthal ancestry remains are depleted of heritability for all traits considered, except those related to skin and hair. Introgressed variants themselves are also depleted for contributions to the heritability of most traits. However, introgressed variants shared across multiple Neanderthal populations are enriched for heritability and have consistent directions of effect on several traits with potential relevance to human adaptation to non-African environments, including hair and skin traits, autoimmunity, chronotype, bone density, lung capacity, and menopause age. Integrating our results, we propose a model in which selection against introgressed functional variation was the dominant trend (especially for cognitive traits); however, for a few traits, introgressed variants provided beneficial variation via uni-directional (e.g., lightening skin color) or bi-directional (e.g., modulating immune response) effects.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Herança Multifatorial
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Homem de Neandertal
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Introgressão Genética
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Modelos Genéticos
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article