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GWAS 分析男性型秃发发现 71 个易感位点,可解释 38%的发病风险。

GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

机构信息

Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, Scotland.

Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.

出版信息

Nat Commun. 2017 Nov 17;8(1):1584. doi: 10.1038/s41467-017-01490-8.

Abstract

Male pattern baldness (MPB) or androgenetic alopecia is one of the most common conditions affecting men, reaching a prevalence of ~50% by the age of 50; however, the known genes explain little of the heritability. Here, we present the results of a genome-wide association study including more than 70,000 men, identifying 71 independently replicated loci, of which 30 are novel. These loci explain 38% of the risk, suggesting that MPB is less genetically complex than other complex traits. We show that many of these loci contain genes that are relevant to the pathology and highlight pathways and functions underlying baldness. Finally, despite only showing genome-wide genetic correlation with height, pathway-specific genetic correlations are significant for traits including lifespan and cancer. Our study not only greatly increases the number of MPB loci, illuminating the genetic architecture, but also provides a new approach to disentangling the shared biological pathways underlying complex diseases.

摘要

男性型秃发(MPB)或雄激素性脱发是影响男性的最常见病症之一,到 50 岁时患病率达到约 50%;然而,已知的基因仅能解释很小一部分遗传率。在这里,我们展示了一项全基因组关联研究的结果,该研究纳入了超过 70000 名男性,确定了 71 个独立复制的位点,其中 30 个是新的。这些位点解释了 38%的风险,表明 MPB 的遗传复杂性低于其他复杂特征。我们表明,这些位点中的许多都包含与病理相关的基因,并突出了秃发的潜在途径和功能。最后,尽管仅与身高表现出全基因组遗传相关性,但途径特异性遗传相关性在包括寿命和癌症在内的特征上具有显著意义。我们的研究不仅极大地增加了 MPB 位点的数量,阐明了遗传结构,还为解开复杂疾病的共享生物学途径提供了一种新方法。

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