A significant breakthrough has been achieved in understanding male pattern hair loss (androgenetic alopecia) as researchers have identified rare gene variants associated with the condition. Male pattern hair loss is a common hereditary condition, and existing treatment options and risk prediction methods are limited.
Traditionally, studies on this condition have focused on common genetic variants, revealing over 350 genetic loci associated with it, with the androgen receptor gene being a notable example. However, the role of rare genetic variants has been assumed to be minimal. To address this gap, researchers conducted a systematic analysis of rare variants, a task that requires large cohorts and detailed genetic sequencing of affected individuals.
The study involved the analysis of genetic sequences from 72,469 male participants from the UK Biobank. The researchers identified rare gene variants that occur in less than one percent of the population and discovered associations with male pattern hair loss in five genes: EDA2R, WNT10A, HEPH, CEPT1, and EIF3F.
EDA2R and WNT10A were already considered candidate genes based on previous research, and this study provided further evidence of their involvement. HEPH, located in a genetic region consistently associated with male pattern hair loss in previous studies, was identified as a new candidate gene. CEPT1 and EIF3F, located in genetic regions not previously linked to the condition, were also identified as potential contributors to the genetic predisposition.
The study also suggested that genes known to cause rare inherited diseases affecting the skin and hair, such as ectodermal dysplasias, may play a role in male pattern hair loss.
This research sheds light on the genetic factors contributing to male pattern hair loss and opens up new avenues for understanding and potentially treating this common condition.