Abstract

Since the discovery of admixture between modern humans and Neandertals, multiple studies investigated the effect of Neandertal-derived DNA on human disease and nondisease phenotypes. These studies have linked Neandertal ancestry to skin- and hair-related phenotypes, immunity, neurological, and behavioral traits. However, these inferences have so far been limited to cohorts with participants of European ancestry. Here, I analyze summary statistics from 40 disease GWAS (genome-wide association study) cohorts of ∼212,000 individuals provided by the Biobank Japan Project for phenotypic effects of Neandertal DNA. I show that Neandertal DNA is associated with autoimmune diseases, prostate cancer and type 2 diabetes. Many of these disease associations are linked to population-specific Neandertal DNA, highlighting the importance of studying a wider range of ancestries to characterize the phenotypic legacy of Neandertals in people today.

中文翻译：

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尼安德特人基因渗入对人类疾病的人群特异性影响

摘要

自从发现现代人类和尼安德特人之间的混合物以来，多项研究调查了尼安德特人 DNA 对人类疾病和非疾病表型的影响。这些研究将尼安德特人的血统与皮肤和毛发相关的表型、免疫、神经和行为特征联系起来。然而，到目前为止，这些推论仅限于具有欧洲血统的参与者的队列。在这里，我分析了 Biobank Japan Project 提供的 40 个疾病 GWAS（全基因组关联研究）队列的汇总统计数据，这些队列包含约 212,000 个人，以了解尼安德特人 DNA 的表型效应。我表明尼安德特人的 DNA 与自身免疫性疾病、前列腺癌和 2 型糖尿病有关。许多这些疾病关联都与特定人群的尼安德特人 DNA 有关，