Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss

Sabrina Katrin Henne, Rana Aldisi, Sugirthan Sivalingam, Lara Maleen Hochfeld, Oleg Borisov, Peter Michael Krawitz, Carlo Maj, Markus Maria Nöthen and Stefanie Heilmann-Heimbach ()
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Sabrina Katrin Henne: University of Bonn, School of Medicine & University Hospital Bonn
Rana Aldisi: University of Bonn
Sugirthan Sivalingam: University of Bonn
Lara Maleen Hochfeld: University of Bonn, School of Medicine & University Hospital Bonn
Oleg Borisov: University of Bonn
Peter Michael Krawitz: University of Bonn
Carlo Maj: University of Bonn
Markus Maria Nöthen: University of Bonn, School of Medicine & University Hospital Bonn
Stefanie Heilmann-Heimbach: University of Bonn, School of Medicine & University Hospital Bonn

Nature Communications, 2023, vol. 14, issue 1, 1-13

Abstract: Abstract Male-pattern hair loss (MPHL) is common and highly heritable. While genome-wide association studies (GWAS) have generated insights into the contribution of common variants to MPHL etiology, the relevance of rare variants remains unclear. To determine the contribution of rare variants to MPHL etiology, we perform gene-based and single-variant analyses in exome-sequencing data from 72,469 male UK Biobank participants. While our population-level risk prediction suggests that rare variants make only a minor contribution to general MPHL risk, our rare variant collapsing tests identified a total of five significant gene associations. These findings provide additional evidence for previously implicated genes (EDA2R, WNT10A) and highlight novel risk genes at and beyond GWAS loci (HEPH, CEPT1, EIF3F). Furthermore, MPHL-associated genes are enriched for genes considered causal for monogenic trichoses. Together, our findings broaden the MPHL-associated allelic spectrum and provide insights into MPHL pathobiology and a shared basis with monogenic hair loss disorders.

Date: 2023
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DOI: 10.1038/s41467-023-41186-w

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