Hair loss- A recent study has uncovered rare genetic variations linked to male pattern hair loss (MPHL), including two previously unidentified ones. This discovery not only advances our comprehension of MPHL but also holds promise for tailoring personalized treatments.
MPHL, also known as androgenetic alopecia, affects approximately 30% to 50% of men by the time they reach 50 years old. Genetic factors contribute to about 80% of MPHL cases. While prior research on MPHL genetics worldwide has mainly centered on common variants, identifying over 350 gene loci, including the X-chromosome-linked androgen receptor gene inherited from the mother.
Male Hair loss
New research led by the University Hospital of Bonn, Germany, has taken a novel approach to gain a deeper understanding of the condition by investigating not only common genetic variants but also rarer ones.
Sabrina Henne, the lead author of the study, explained the challenges involved in such analyses, as they necessitate large cohorts and detailed genetic sequencing methods, such as genome or exome sequencing of affected individuals. It’s akin to searching for a needle in a haystack because statistically, only a few individuals, or perhaps just one, may carry these specific variants.
Stefanie Heilmann-Heimback, the study’s corresponding author, mentioned the use of gene-based analyses that aggregate variants based on the genes in which they are located. This approach helps identify significant genetic factors associated with the condition.
The researchers accessed data from the UK Biobank, which included information from 72,469 men aged 39 to 82 years. They employed advanced methods, such as the sequencing kernel association test (SKAT) and GenRisk, an open-source Python package, to examine rare genetic variants occurring in less than 1% of the population. These methods allowed them to explore the genetic factors influencing individuals’ observable traits (phenotype).
The research uncovered rare genetic variants in five genes: EDA2R, WNT10A, HEPH, CEPT1, and EIF3F. EDA2R and WNT10A had already been considered candidate genes based on analyses of common variants, and the study confirmed that they also play a role as rare variants.
Stefanie Heilmann-Heimbach noted, “Our study provides further evidence that these two genes play a role and that this occurs through both common and rare variants.”
Similarly, HEPH is located in a genetic region near EDA2R and the androgen receptor, which has been strongly associated with hair loss in previous genetic studies. However, HEPH itself had not been considered a candidate gene before this study, suggesting it may also contribute to the condition.
The genes CEPT1 and EIF3F are located in genetic regions not previously linked to male pattern hair loss, making them entirely new candidate genes. The researchers hypothesize that rare variants within these genes may contribute to the genetic predisposition for the condition. Given their known roles in hair development and growth, HEPH, CEPT1, and EIF3F are highly plausible new candidate genes.
Furthermore, the findings imply that genes known to cause rare inherited skin and hair conditions like ectodermal dysplasia may also have a role in the development of MPHL.
To better understand how rare and common genetic variants interact in MPHL and the specific contributions of rare variants to the condition’s development, further studies are required. The researchers anticipate that the additional insights from their research will pave the way for improved, personalized treatment strategies for men experiencing inherited hair loss.
The study was published in the reputable scientific journal Nature Communications
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