Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Department of Genomics, Life &Brain Center, University of Bonn, 53127 Bonn, Germany.
Nat Commun. 2017 Mar 8;8:14694. doi: 10.1038/ncomms14694.
Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We identify 63 MPB-associated loci (P<5 × 10, METAL) of which 23 have not been reported previously. The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes (FGF5, IRF4, DKK2) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the development of novel therapeutic options. The data provide molecular evidence that rather than being an isolated trait, MPB shares a substantial biological basis with numerous other human phenotypes and may deserve evaluation as an early prognostic marker, for example, for prostate cancer, sudden cardiac arrest and neurodegenerative disorders.
男性型脱发（MPB）是一种常见的、高度遗传性的特征，表现为雄激素依赖性、头皮渐进性脱发。在这里，我们进行了迄今为止最大的男性型脱发全基因组关联研究荟萃分析，包括来自八个独立队列的 10846 例早发性病例和 11672 例对照。我们确定了 63 个与 MPB 相关的位点（P<5 × 10，METAL），其中 23 个以前没有报道过。这 63 个位点解释了 MPB 表型变异的约 39%，并突出了几个合理的候选基因（FGF5、IRF4、DKK2）和途径（褪黑素信号、脂肪生成），这些基因和途径可能与 MPB 的关键病理生理特征有关，可能是开发新治疗选择的有前途的靶点。这些数据提供了分子证据，表明 MPB 不是一种孤立的特征，而是与许多其他人类表型有很大的生物学基础，可能值得作为早期预后标志物进行评估，例如前列腺癌、心源性猝死和神经退行性疾病。
