Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.
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.
Hillmer
Axel M
AM
Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.
Hanneken
Sandra
S
Ritzmann
Sibylle
S
Becker
Tim
T
Freudenberg
Jan
J
Brockschmidt
Felix F
FF
Flaquer
Antonia
A
Freudenberg-Hua
Yun
Y
Jamra
Rami Abou
RA
Metzen
Christine
C
Heyn
Uwe
U
Schweiger
Nadine
N
Betz
Regina C
RC
Blaumeiser
Bettina
B
Hampe
Jochen
J
Schreiber
Stefan
S
Schulze
Thomas G
TG
Hennies
Hans Christian
HC
Schumacher
Johannes
J
Propping
Peter
P
Ruzicka
Thomas
T
Cichon
Sven
S
Wienker
Thomas F
TF
Kruse
Roland
R
Nothen
Markus M
MM
D000505:Alopecia / Q000235:genetics*; D041321:Chromosomes, Human, X; D008040:Genetic Linkage; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D008297:Male; D011944:Receptors, Androgen / Q000235:genetics*
D005819:Genetic Markers; D011944:Receptors, Androgen