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

  title={Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.},
  author={Axel M. Hillmer and Sandra Hanneken and Sibylle Ritzmann and Tim Becker and Jan Freudenberg and Felix F. Brockschmidt and Ant{\`o}nia Flaquer and Yun Freudenberg-Hua and Rami Abou Jamra and Christine Metzen and Uwe Heyn and Nadine Schweiger and Regina C. Betz and Bettina Blaumeiser and Jochen Hampe and Stefan Schreiber and Thomas G. Schulze and Hans Christian Hennies and Johannes Schumacher and P. Propping and Thomas Ruzicka and Sven Cichon and Thomas F. Wienker and Roland Kruse and Markus M. Nothen},
  journal={American journal of human genetics},
  volume={77 1},
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… 

Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia

Comprehensive evidence is presented from approximately 1,200 fathers and sons drawn from 703 families of the Victorian Family Heart Study, a general population Caucasian cohort, that neither exon 1 triplet repeat polymorphism is causative in this condition.

A genetic test for androgenetic alopecia: polymorphisms in the androgen receptor gene provide a genetic screening test for androgenetic alopecia and earlier medical intervention

  • Sharon A. Keene
  • Biology, Medicine
    International Society of Hair Restoration Surgery
  • 2008
A particular polymorphism or variant allele at the androgen receptor (AR) gene on the X chromosome has been shown to be associated with a higher risk of developing androgenetic alopecia and a protective, less frequent allele has been associated with the very low likelihood of developing AGA.

Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology.

This study provides genetic evidence supporting an involvement of WNT signaling in AGA development, and identifies four genome-wide significant risk loci for AGA on chromosomes 2q35, 3q25.1, 5q33.3, and 12p12.1.

Lack of concordance and linkage disequilibrium among brothers for androgenetic alopecia and CAG/GGC haplotypes of the androgen receptor gene in Mexican families

Several studies indicate that the numbers of CAG/GGC repeats in exon 1 of the androgen receptor gene (AR) maybe associated with AGA susceptibility.

Androgen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control Study

The results suggest this form of genomic variation at the AR locus is unlikely to predispose to AGA, and thus no evidence of significant association between AGA and AR CNV is found.

Hunting the genes in male‐pattern alopecia: how important are they, how close are we and what will they tell us?

The strength of the genetic approach and anticipated developments in the field are discussed, and how these will facilitate the systematic unravelling of AGA pathobiology, a process which may lead to the identification of new therapeutic targets.

A Study of the androgen receptor gene polymorphism and the level of expression of the androgen receptor in androgenetic alopecia among Egyptians

This is the best of the authors' knowledge the first study of AR gene polymorphism and AR expression in AGA amongst Egyptians and contributes in the understanding of the molecular pathogenesis of AGA.

Men with Kennedy disease have a reduced risk of androgenetic alopecia

KD is an X‐linked neurodegenerative disease caused by an expansion of a polymorphic tandem CAG repeat within the androgen receptor (AR) gene on chromosomal locus Xq11‐q12 and degree of expansion of this repeat region is correlated with age at onset and disease severity.

Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss

It is hypothesized that FPHL and male pattern baldness (AGA) share common susceptibility alleles, and the two major susceptibility loci for AGA are the androgen receptor (AR)/ectodysplasin A2 receptor (EDA2R) locus on the X‐chromosome, and a locu on chromosome 20p11, for which no candidate gene has yet been identified.

Role of polymorphism of the androgen receptor gene andnon-random x chromosome inactivation in the pathogenesisof androgenic alopecia

  • A. N. Mareeva
  • Biology, Medicine
    Vestnik dermatologii i venerologii
  • 2010
The article presents data on molecular and genetic studies of mechanisms of development of androgenic alopecia as well as correlation between polymorphism of the androgen receptor gene by the CAG



The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family‐based association approach

The human hairless gene (HR) has recently been cloned and mutations have been reported in families with autosomal recessive universal congenital alopecia and papular atrichia, suggesting that HR is essential and specific for the development of hair.

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

It is concluded that enlargement of the CAG repeat in the androgen receptor gene is probably the cause of X-LINKED spinal and bulbar muscular atrophy.

Insulin gene polymorphism and premature male pattern baldness in the general population

It is concluded that, in the general population, the insulin gene is not associated with premature male pattern baldness.

Partial Androgen Insensitivity Syndrome and t(X;5): Are There Upstream Regulatory Elements of the Androgen Receptor Gene?

The analysis of the chromosomal abnormality suggests that this translocation may remove one or more upstream regulatory elements of the AR gene that are essential for its normal expression and its role in typical external masculinization.

Reduced transcriptional regulatory competence of the androgen receptor in X–linked spinal and bulbar muscular atrophy

It is found that a polyglutamine (Gln) expanded AR transactivates an androgen–responsive reporter gene subnormally and causes the AR to lose a function necessary for full androgen sensitivity and to gain a function that is selectively motor neuronotoxic.

Polymorphic GGC repeats in the androgen receptor gene are associated with hereditary and sporadic prostate cancer risk

The consistent results from both linkage and association studies strongly implicate the GGC repeats in the AR as a prostate cancer susceptibility gene.

Effect of a short CAG (glutamine) repeat on human androgen receptor function

The goal of the present study was to directly test the hypothesis that a 17‐CAG repeat might uniquely affect androgen action in human prostate cancer cells.

The inheritance of common baldness: two B or not two B?

A novel regulatory element associated with age-dependent expression of the rat androgen receptor gene.

Reduced androgen receptor gene expression with first exon CAG repeat expansion.

The findings indicate that glutamine expansion up to 66 residues in the NH2-terminal domain of AR does not alter AR functional activity and CAG repeat expansion in the region of the first exon reduces AR mRNA and protein expression.