Male pattern baldness is the most common form of hair loss in men, largely attributed to genetic factors. Current treatment options and risk prediction remain suboptimal, necessitating research into the genetic basis of the condition. Until now, studies worldwide have primarily focused on common genetic variants, including over 350 genetic sites, notably the androgen receptor gene located on the X chromosome inherited from the mother. Conversely, it has traditionally been assumed that the contribution of rare genetic variants to this common condition is low. However, there have been no systematic analyses of rare variants.
In a recent study, scientists have discovered genes that may cause baldness in men. They found that rare genetic mutations might contribute to hair loss in men. The team at the University of Bonn in Germany hopes that their findings will help identify at-risk men and improve treatment options. The team studied the genetic sequencing of 72,469 men from the UK Biobank, searching for causes that might lead to receding hairlines or complete hair loss. Using modern bioinformatics and statistical methods, they found associations between male hair loss and rare genetic variants in the following five genes: EDA2R, WNT10A, HEPH, CEPT1, and EIF3F.
Sabrina Henn, the lead author of the study and a professor of human genetics at the University of Bonn, stated that before conducting the analyses, EDA2R and WNT10A were already considered candidate genes based on previous analyses of common variants. However, the new study suggests that the HEPH gene may also play a role. HEPH is located in a genetic area already involved in common variants, the EDA2R/androgen receptors region, which has consistently shown the strongest association with male hair loss in previous association studies.
Henn explained that HEPH had not previously been considered a candidate gene at all. "Our study suggests that it could play a role as well." The genes CEPT1 and EIF3F are in genetic areas not yet associated with male hair loss, making them entirely new candidate genes. The researchers hypothesize that rare variants within these genes contribute to genetic predisposition. HEPH, CEPT1, and EIF3F represent very plausible new candidate genes, given their previously described roles in hair development and growth.
