Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness

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 × 10-8, 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.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics
  • Adipogenesis / genetics
  • Alopecia / genetics*
  • Case-Control Studies
  • Fibroblast Growth Factor 5 / genetics
  • Genetic Association Studies
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics
  • Interferon Regulatory Factors / genetics
  • Male
  • Melatonin
  • Membrane Proteins / genetics
  • Phenotype
  • Signal Transduction / genetics
  • Trans-Activators / genetics


  • DKK2 protein, human
  • EBF1 protein, human
  • FGF5 protein, human
  • Intercellular Signaling Peptides and Proteins
  • Interferon Regulatory Factors
  • Membrane Proteins
  • Trans-Activators
  • interferon regulatory factor-4
  • Fibroblast Growth Factor 5
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
  • SRD5A2 protein, human
  • Melatonin