Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia

Axel M. Hillmer, Sandra Hanneken, Sibylle Ritzmann, Tim Becker, Jan Freudenberg, Felix F. Brockschmidt, Antonia Flaquer, Yun Freudenberg-Hua, Rami Abou Jamra, Christine Metzen, Uwe Heyn, Nadine Schweiger, Regina C. Betz, Bettina Blaumeiser, Jochen Hampe, Stefan Schreiber, Thomas G. Schulze, Hans Christian Hennies, Johannes Schumacher, Peter ProppingThomas Ruzicka, Sven Cichon, Thomas F. Wienker, Roland Kruse, Markus M. Nöthen

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Abstract

Androgenetic alopecia (AGA), or male-pattern baldness, is the most common form of hair loss. Its pathogenesis is androgen dependent, and genetic predisposition is the major requirement for the phenotype. We demonstrate that genetic variability in the androgen receptor gene (AR) is the cardinal prerequisite for the development of early-onset AGA, with an etiological fraction of 0.46. The investigation of a large number of genetic variants covering the AR locus suggests that a polyglycine-encoding GGN repeat in exon 1 is a plausible candidate for conferring the functional effect. The X-chromosomal location of AR stresses the importance of the maternal line in the inheritance of AGA.

Original languageEnglish
Pages (from-to)140-148
Number of pages9
JournalAmerican Journal of Human Genetics
Volume77
Issue number1
DOIs
Publication statusPublished - 1 Jan 2005
Externally publishedYes

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Hillmer, A. M., Hanneken, S., Ritzmann, S., Becker, T., Freudenberg, J., Brockschmidt, F. F., ... Nöthen, M. M. (2005). Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. American Journal of Human Genetics, 77(1), 140-148. https://doi.org/10.1086/431425