Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.
Exp Dermatol. 2020 Sep;29(9):814-827. doi: 10.1111/exd.14130. Epub 2020 Jul 3.
Male-pattern hair loss, also termed androgenetic alopecia (AGA), is a highly prevalent age-related condition that is characterized by a distinct pattern of hair loss from the frontotemporal and vertex regions of the scalp. The phenotype is highly heritable and hormone dependent, with androgens being the recognized critical hormonal factor. Numerous molecular genetic studies have focused on genetic variation in and around the gene that encodes the androgen receptor. More recently, however, the availability of high-throughput molecular genetic methods, novel methods of data analysis and sufficiently large sample sizes have rendered possible the systematic investigation of the contribution of other components of the androgen receptor pathway or hormonal pathways beyond the androgen receptor signalling pathways. Over the past decade, genome-wide association studies of increasingly large cohorts have enabled the genome-wide identification of genetic risk factors for AGA, and yielded unprecedented insights into the underlying pathobiology. The present review discusses some of the most intriguing genetic findings on the relevance of (sex)hormonal signalling in AGA.
男性型脱发,也称为雄激素性脱发(AGA),是一种高发的与年龄相关的疾病,其特征是头皮额颞部和顶点区域出现明显的脱发模式。表型具有高度遗传性和激素依赖性,雄激素是公认的关键激素因素。许多分子遗传学研究都集中在雄激素受体基因及其周围的基因变异上。然而,最近高通量分子遗传学方法、新的数据分析方法以及足够大的样本量的出现,使得系统研究雄激素受体信号通路以外的其他雄激素受体通路或激素通路成分的贡献成为可能。在过去的十年中,越来越大的队列的全基因组关联研究使 AGA 的遗传风险因素在全基因组范围内得到了识别,并为潜在的病理生物学提供了前所未有的见解。本文综述了一些关于(性)激素信号在 AGA 中的相关性的最有趣的遗传发现。