Genetic prediction of male pattern baldness

Abstract

Male pattern baldness can have substantial psychosocial effects, and it has been phenotypically linked to adverse health outcomes such as prostate cancer and cardiovascular disease. We explored the genetic architecture of the trait using data from over 52,000 male participants of UK Biobank, aged 40-69 years. We identified over 250 independent genetic loci associated with severe hair loss (P<5x10-8). By splitting the cohort into a discovery sample of 40,000 and target sample of 12,000, we developed a prediction algorithm based entirely on common genetic variants that discriminated (AUC = 0.78, sensitivity = 0.74, specificity = 0.69, PPV = 59%, NPV = 82%) those with no hair loss from those with severe hair loss. The results of this study might help identify those at greatest risk of hair loss, and also potential genetic targets for intervention.

Fig 1. Manhattan Plot of imputed autosomal GWAS and genotyped X chromosome of male pattern baldness (p-values truncated at 1x10^-150).

Fig 2. Area under the curve plot for discriminating those with hair loss from those with no loss.

Fig 3. Distribution of hair loss by male pattern baldness polygenic score decile in the independent sample.

Fig 4. Screenshot of UK Biobank question 2395 on male pattern baldness, adapted with permission.