Analysis of 72,469 UK Biobank Exomes Links Rare Variants to Male-Pattern Hair Loss

    September 2023 in “ Nature Communications ”
    S. Henne, Rana Aldisi, Sugirthan Sivalingam, Lara M. Hochfeld, Oleg Borisov, Peter Krawitz, Carlo Maj, Markus M. Nöthen, Markus M. Nöthen
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    Studysummary In this study, the researchers found that rare genetic variants make a minor contribution to male-pattern hair loss risk, identifying five significant gene associations, including novel genes, and noting a shared basis with monogenic hair loss disorders. Our plain-language summary of this paper — not a Tressless recommendation.
    The study "Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss" analyzed the genetic basis of male-pattern hair loss (MPHL) in 72,469 men. The research found that rare genetic variants contribute to MPHL, with significant associations identified in five genes: EDA2R, HEPH, CEPT1, WNT10A, and EIF3F. These genes are all expressed in human hair follicles and some have been previously implicated in MPHL. The study also found a potential genetic link between common MPHL and rare hair loss disorders. However, the study concluded that these rare variants explain only a minor fraction of the genetic risk for MPHL at the population level. Despite this, they can significantly contribute to individual risk. The study also developed a risk prediction model integrating MPHL polygenic risk scores and GenRisk gene-based scores, which showed medium discriminative power in distinguishing no hair loss from severe hair loss.
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