气候变化领域集成服务门户(CCPortal): Quantifying the contribution of Neanderthal introgression to the heritability of complex traits

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DOI	10.1038/s41467-021-24582-y
	Quantifying the contribution of Neanderthal introgression to the heritability of complex traits
	McArthur E.; Rinker D.C.; Capra J.A.
发表日期	2021
卷号	12 期号:1
英文摘要	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. © 2021, The Author(s).
语种	英语
scopus关键词	ancestry; heritability; introgression; Neanderthal; quantitative analysis; Article; autoimmune disease; autoimmunity; body mass; bone density; cognition; comparative study; controlled study; female; forced vital capacity; gene frequency; gene linkage disequilibrium; genetic variation; hair; heritability; Homo neanderthalensis; human; human genome; immune response; immunomodulation; introgression; leukocyte count; lung capacity; lung volume; major clinical study; male; menopause; platelet count; single nucleotide polymorphism; skin color; systolic blood pressure; adaptation; allele; anatomy and histology; animal; biological model; genetic selection; genetics; genome-wide association study; Homo neanderthalensis; multifactorial inheritance; phenotype; physiology; Adaptation, Physiological; Alleles; Animals; Cognition; Female; Genetic Introgression; Genetic Variation; Genome, Human; Genome-Wide Association Study; Hair; Humans; Linkage Disequilibrium; Male; Models, Genetic; Multifactorial Inheritance; Neanderthals; Phenotype; Selection, Genetic
来源期刊	Nature Communications
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/251551
作者单位	Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37235, United States; Department of Biological Sciences, Vanderbilt University, Nashville, TN 37235, United States; Bakar Computational Health Sciences Institute and Department of Epidemiology and Statistics, University of California San Francisco, San Francisco, CA 94107, United States
推荐引用方式 GB/T 7714	McArthur E.,Rinker D.C.,Capra J.A.. Quantifying the contribution of Neanderthal introgression to the heritability of complex traits[J],2021,12(1).
APA	McArthur E.,Rinker D.C.,&Capra J.A..(2021).Quantifying the contribution of Neanderthal introgression to the heritability of complex traits.Nature Communications,12(1).
MLA	McArthur E.,et al."Quantifying the contribution of Neanderthal introgression to the heritability of complex traits".Nature Communications 12.1(2021).