Posted on Sep 26, 2023, 7 p.m.
Research into male pattern hair loss (androgenetic alopecia) has implicated multiple common genetic variants for a receding hairline, total loss of hair from the crown, and ultimately the classical horseshoe-shaped pattern of baldness. Recent research from the University Hospital of Bonn (UKB) performed a systematic investigation of the extent to which rare genetic variants may also contribute to the disorder.
"Such analyses are more challenging as they require large cohorts, and the genetic sequences must be captured base by base, e.g., through genome or exome sequencing of affected individuals," explained first author Sabrina Henne, who is a doctoral student at the Institute of Human Genetics at the UKB and the University of Bonn.
"That is why we apply gene-based analyses that first collapse variants on the basis of the genes in which they are located," explained corresponding author PD Dr. Stefanie Heilmann-Heimbach, who is a research group leader at the Institute of Human Genetics at the UKB and at the University of Bonn.
For this study the genetic sequences of 72,469 male participants from the UK BioBank were analyzed, which revealed five significantly associated genes, and further corroborated genes previously implicated in other research: EDA2R, WNT10A, HEPH, CEPT1, and EIF3F. Bonn researchers used bioinformatic and statistical methods along with sequence kernel testing, and GenRisk among other methods to examine rare gene variants that occur in less than 1% of the population.
"Our study provides further evidence that these two genes play a role and that this occurs through both common and rare variants," explained Dr. Stefanie Heilmann-Heimbach. Similarly, HEPH is located in a genetic region that has already been implicated by common variants, namely the EDA2R/Androgen receptor, which is a region that has consistently shown the strongest association with male-pattern hair loss in past association studies.
"However, HEPH itself has never been considered as a candidate gene. Our study suggests that it may also play a role," explained Sabrina Henne. "The genes CEPT1 and EIF3F are located in genetic regions that have not yet been associated with male-pattern hair loss. They are thus entirely new candidate genes, and we hypothesize that rare variants within these genes contribute to the genetic predisposition. HEPH, CEPT1, and EIF3F represent highly plausible new candidate genes, given their previously described role in hair development and growth."
Results suggest that genes known to cause rare inherited diseases that affect both the skin and hair may also play a role in the development of male pattern hair loss. The researchers hope that their discoveries will help to improve and facilitate new treatment strategies.
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