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

Item Type:Article
Title:Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia
Creators Name:Hillmer, A.M. and Hanneken, S. and Ritzmann, S. and Becker, T. and Freudenberg, J. and Brockschmidt, F.F. and Flaquer, A. and Freudenberg-Hua, Y. and Jamra, R.A. and Metzen, C. and Heyn, U. and Schweiger, N. and Betz, R.C. and Blaumeiser, B. and Hampe, J. and Schreiber, S. and Schulze, T.G. and Hennies, H.C. and Schumacher, J. and Propping, P. and Ruzicka, T. and Cichon, S. and Wienker, T.F. and Kruse, R. and Noethen, M.M.
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.
Keywords:Alopecia, Human X Chromosomes, Genetic Markers, Genetic Predisposition to Disease, Linkage, Androgen Receptors, Variation
Source:American Journal of Human Genetics
ISSN:0002-9297
Publisher:University of Chicago Press (U.S.A.)
Volume:77
Number:1
Page Range:140-148
Date:July 2005
Official Publication:https://doi.org/10.1086/431425
PubMed:View item in PubMed

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