The Role of Rare Variants in Male-Pattern Hair Loss: Analysis of Whole Exome Sequencing Data in the UK Biobank

November 2022 in “ Journal of Investigative Dermatology ”

S. K. Henne, R. Aldisi, S. Sivalingam, L.M. Hochfeld, C. Maj, O. Borisov, M.M. Nöthen, Peter Krawitz, S. Heilmann-Heimbach

male-pattern hair loss MPHL rare coding variants WNT10A CDH1 SPINK5 monogenic trichoses genes male-pattern baldness

TLDR Rare genetic variants in 125 genes are linked to male-pattern hair loss.

This study investigated the role of rare coding variants in male-pattern hair loss (MPHL) using exome data from 72,469 men in the UK Biobank. Despite the minimal overall contribution of rare variants to MPHL risk prediction, significant associations were found with rare variants in 125 genes and 2 single variants. These include both previously known candidate genes (e.g., WNT10A) and novel ones (e.g., CDH1, SPINK5). The study also noted an enrichment of genes responsible for monogenic trichoses, suggesting a link between these genes and the common MPHL phenotype.

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research The Role of Rare Variants in Male-Pattern Hair Loss: Analysis of Whole Exome Sequencing Data in the UK Biobank

November 2022 in “Journal of Investigative Dermatology”

Rare genetic variants in 125 genes are linked to male-pattern hair loss.