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 Propping & 5 others Thomas Ruzicka, Sven Cichon, Thomas F. Wienker, Roland Kruse, Markus M. Nöthen

Research output: Contribution to journalArticle

132 Citations (Scopus)

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.

LanguageEnglish
Pages140-148
Number of pages9
JournalAmerican Journal of Human Genetics
Volume77
Issue number1
DOIs
Publication statusPublished - 1 Jan 2005
Externally publishedYes

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Alopecia
Androgen Receptors
Genes
Genetic Predisposition to Disease
Androgens
Exons
Mothers
human AR protein
Phenotype

Cite this

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
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 ; Nöthen, Markus M. / Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. In: American Journal of Human Genetics. 2005 ; Vol. 77, No. 1. pp. 140-148.
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title = "Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia",
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.",
author = "Hillmer, {Axel M.} and Sandra Hanneken and Sibylle Ritzmann and Tim Becker and Jan Freudenberg and Brockschmidt, {Felix F.} and Antonia Flaquer and Yun Freudenberg-Hua and Jamra, {Rami Abou} and Christine Metzen and Uwe Heyn and Nadine Schweiger and Betz, {Regina C.} and Bettina Blaumeiser and Jochen Hampe and Stefan Schreiber and Schulze, {Thomas G.} and Hennies, {Hans Christian} and Johannes Schumacher and Peter Propping and Thomas Ruzicka and Sven Cichon and Wienker, {Thomas F.} and Roland Kruse and N{\"o}then, {Markus M.}",
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Hillmer, AM, Hanneken, S, Ritzmann, S, Becker, T, Freudenberg, J, Brockschmidt, FF, Flaquer, A, Freudenberg-Hua, Y, Jamra, RA, Metzen, C, Heyn, U, Schweiger, N, Betz, RC, Blaumeiser, B, Hampe, J, Schreiber, S, Schulze, TG, Hennies, HC, Schumacher, J, Propping, P, Ruzicka, T, Cichon, S, Wienker, TF, Kruse, R & Nöthen, MM 2005, 'Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia', American Journal of Human Genetics, vol. 77, no. 1, pp. 140-148. https://doi.org/10.1086/431425

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. / 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; Nöthen, Markus M.

In: American Journal of Human Genetics, Vol. 77, No. 1, 01.01.2005, p. 140-148.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia

AU - Hillmer, Axel M.

AU - Hanneken, Sandra

AU - Ritzmann, Sibylle

AU - Becker, Tim

AU - Freudenberg, Jan

AU - Brockschmidt, Felix F.

AU - Flaquer, Antonia

AU - Freudenberg-Hua, Yun

AU - Jamra, Rami Abou

AU - Metzen, Christine

AU - Heyn, Uwe

AU - Schweiger, Nadine

AU - Betz, Regina C.

AU - Blaumeiser, Bettina

AU - Hampe, Jochen

AU - Schreiber, Stefan

AU - Schulze, Thomas G.

AU - Hennies, Hans Christian

AU - Schumacher, Johannes

AU - Propping, Peter

AU - Ruzicka, Thomas

AU - Cichon, Sven

AU - Wienker, Thomas F.

AU - Kruse, Roland

AU - Nöthen, Markus M.

PY - 2005/1/1

Y1 - 2005/1/1

N2 - 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.

AB - 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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U2 - 10.1086/431425

DO - 10.1086/431425

M3 - Article

VL - 77

SP - 140

EP - 148

JO - American Journal of Human Genetics

T2 - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -