Recent Positive Selection of a Human Androgen Receptor/Ectodysplasin A2 Receptor Haplotype and Its Relationship to Male Pattern Baldness

April 2009 in “ Human Genetics ”

Axel M. Hillmer, Jan Freudenberg, Sean Myles, Stefan Herms, Kun Tang, David A. Hughes, Felix F. Brockschmidt, Yijun Ruan, Mark Stoneking, Markus M. Nöthen

androgenetic alopecia androgen receptor ectodysplasin A2 receptor AGA AR EDA2R 57K mutation male pattern baldness

TLDR A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.

The study investigated the genetic basis of androgenetic alopecia (AGA) by examining the androgen receptor (AR) and ectodysplasin A2 receptor (EDA2R) haplotypes, particularly in European populations. It found that the AGA risk haplotype was likely driven to high frequency by positive selection, with a specific mutation, 57K in EDA2R, playing a significant role. This mutation was fixed in East Asia, where AGA prevalence was lower, suggesting that genetic background or environmental factors might influence the expression of AGA. The study highlighted the need for further research in non-European populations to understand these genetic dynamics better.

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