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Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia |
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| Authors: | Hillmer Axel M Hanneken Sandra Ritzmann Sibylle Becker Tim Freudenberg Jan Brockschmidt Felix F Flaquer Antonia Freudenberg-Hua Yun Jamra Rami Abou Metzen Christine Heyn Uwe Schweiger Nadine Betz Regina C Blaumeiser Bettina Hampe Jochen Schreiber Stefan Schulze Thomas G Hennies Hans Christian Schumacher Johannes Propping Peter Ruzicka Thomas Cichon Sven Wienker Thomas F Kruse Roland Nothen Markus M |
| Affiliation: | Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany. |
| 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. |
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