rs6152

badMag 5.5

This is a synonymous variant in the AR gene — it does not change the protein's amino acid sequence.

Key Literature Trait Associations

Male Pattern Baldness

The G allele of rs6152, a synonymous variant in exon 1 of the androgen receptor (AR) gene on chromosome X, is strongly associated with early-onset androgenetic alopecia. In a study of 198 affected males and 188 controls, the G allele conferred an OR of 5.26 (95% CI 2.45-11.3). A meta-analysis of 2,074 cases and 1,115 controls confirmed the association (OR=2.68, 95% CI 1.71-4.19). The AR gene is the major genetic determinant of common baldness.

Zhuo FL et al. “Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis.” Clinical and Experimental Dermatology (2012)

Allele G

OR 2.68

p 1.0e-2

N 3,189

Meta-analysis

multi-ancestry

Hillmer AM et al. “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 (2005)

Allele G

OR 5.26

p 5.9e-5

Candidate gene study

Justine A. Ellis et al. “Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia” Human Genetics (2007)

Allele G

OR —

p 1.0e-4

N 1,203

Preliminary work

European (Australian)

Prodi DA et al. “EDA2R is associated with androgenetic alopecia.” The Journal of Investigative Dermatology (2008)

Allele G

OR —

p 4.2e-12

N 984

Small GWAS

European (Sardinian)

Kucerova R et al. “Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with benign prostate hyperplasia or prostate cancer.” Journal of the European Academy of Dermatology and Venereology : Jeadv (2015)

Allele G

OR —

p —

N 309

Candidate gene study

European (Czech)

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ClinVar annotation

Benign★★★☆

5 submitters6 publications

Androgen resistance syndrome (AIS); Kennedy disease (SMAX1); not specified

View on ClinVar →

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Research that mentions this SNP (1)

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

AssociationN=1,200Justine A. Ellis et al.(2007)· Human Genetics

In a population-based study of ~1,200 men from the Victorian Family Heart Study, Ellis et al. examined the association between male pattern baldness (androgenetic alopecia) and three androgen receptor (AR) polymorphisms. The synonymous SNP rs6152 was strongly associated with baldness (OR = 0.54, P < 0.0001 for none vs any baldness), confirming and extending previous findings. However, neither the polyglutamine (CAG) nor polyglycine (GGN) triplet repeat polymorphisms in AR exon 1 were independently causative, suggesting the causal variant remains to be identified in non-coding regions.

rs6152

Key Literature Trait Associations

Male Pattern Baldness

ClinVar annotation

Research that mentions this SNP (1)

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