人类毛发性状全基因组关联研究综述
A Comprehensive Review of GWASs of Human Hair Traits.
作者信息
Needle Carli D, Brinks Anna L, Perez Olivia D, Shapiro Jerry, Lo Sicco Kristen I, Tsirigos Aristotelis, Petukhova Lynn
机构信息
The Ronald O. Perelman Department of Dermatology, NYU Grossman School of Medicine, New York, New York, USA.
Division of Precision Medicine, Department of Medicine, NYU Grossman School of Medicine, New York, New York, USA; Applied Bioinformatics Laboratories, Office of Science and Research, NYU Grossman School of Medicine, New York, New York, USA.
出版信息
J Invest Dermatol. 2025 Aug 19. doi: 10.1016/j.jid.2025.07.004.
Hair traits are nonpathogenic features that vary among individuals. Unlike hair follicle (HF) diseases, which are rare in the population, hair traits can be measured in everyone. This facilitates the construction of large cohorts that are well-powered for gene discovery. GWASs identify genetic variants that are widely shared among people globally, providing knowledge with broad population relevance. We compile findings from hair trait GWASs to deepen our understanding of HF biology. In reviewing genetic factors that influence hair traits, we demonstrate overlap with disease genes, underscoring that genetic studies of traits improve our knowledge about health and disease.
头发特征是个体间存在差异的非致病性特征。与在人群中较为罕见的毛囊（HF）疾病不同，头发特征可以在每个人身上进行测量。这有助于构建大规模队列，为基因发现提供充足的样本量。全基因组关联研究（GWASs）识别出全球人群中广泛共有的基因变异，提供具有广泛人群相关性的知识。我们汇总头发特征GWASs的研究结果，以加深我们对毛囊生物学的理解。在回顾影响头发特征的遗传因素时，我们证明了与疾病基因的重叠，强调了对特征的遗传研究有助于增进我们对健康和疾病的认识。
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