Androgen receptor trinucleotide polymorphism in leiomyoma

J Assist Reprod Genet. 2004 Dec;21(12):453-7. doi: 10.1007/s10815-004-8762-6.

Abstract

Objective: Androgen receptor (AR) was detected in leiomyoma. AR gene has a polymorphic microsatellite encoding cytosine, adenine, and guanine (CAG) repeats. We aimed to investigate the association between the AR gene CAG repeats and leiomyoma.

Methods: Women were divided into two groups: (1) leiomyoma (n = 159); (2) non- leiomyoma groups (n = 129). Their CAG repeats were detected by polymerase chain reaction. The CAG repeats ranged in length from 168 bp (9 CAG repeats, genotype A) to 234 bp (31 CAG repeats, genotype W). Distributions of CAG repeats in both groups were compared.

Results: Genotype proportions of different CAG repeats for AR gene in both groups were significantly different. The genotype S (27 CAG repeats) is associated with higher susceptibility of leiomyoma. Distribution of CAG repeats in both groups appeared mono-peak distributions. Percentages of genotypes K-S (19-27 CAG repeats) in leiomyoma and non-leiomyoma groups were: (1) 5,11,19.5, 10.4, 12.9, 8.8, 7.5, 5.7, 4.4%; (2) 5.4, 14.3,16.7, 12.8, 12.4, 5.8, 9.3, 7,1.2%.

Conclusions: AR trinucleotide polymorphism is associated with leiomyoma susceptibility. The 27 CAG repeats is related with higher risk of leiomyoma.

MeSH terms

  • Adenine / metabolism
  • Alleles
  • Cytosine / metabolism
  • DNA / metabolism
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Guanine / metabolism
  • Humans
  • Leiomyoma / genetics*
  • Microsatellite Repeats
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Receptors, Androgen / genetics*
  • Risk Factors
  • Taiwan
  • Trinucleotide Repeats*
  • Uterine Neoplasms / genetics*

Substances

  • Receptors, Androgen
  • Guanine
  • Cytosine
  • DNA
  • Adenine