Analysis of G/A polymorphism in the androgen response element I of the PSA gene and its interactions with the androgen receptor polymorphisms

Urology. 2003 Apr;61(4):864-9. doi: 10.1016/s0090-4295(02)02414-7.


Objectives: To compare the in vitro functional activity of the prostate-specific antigen (PSA) androgen response element (ARE) I alleles alone or in combination with androgen receptor (AR) polymorphisms and to determine the association of ARE I alleles with serum PSA in men without clinical prostatic disease. Data are conflicting regarding the association of PSA promoter alleles with serum PSA in men.

Methods: In vitro functional analyses of ARE I and AR polymorphisms were conducted by luciferase reporter assays in LNCaP and PC-3 cells. Associations among serum PSA, ARE I, and AR genotypes were determined by genotyping 109 white and 71 African-American men determined to be free of clinical prostatic disease.

Results: We found no significant difference in the androgen responsiveness of the two alleles when cells were transfected with PSA promoter reporter constructs differing only in the ARE I single nucleotide polymorphism and treated with varying doses of androgen. The response to androgens of the ARE I alleles co-transfected with AR expression vectors of 9, 21, and 29 CAG repeat lengths were identical. No individual or combined effects of the ARE I genotype and the AR genotype on serum PSA were noted.

Conclusions: Our data indicate that ARE I polymorphisms, alone or in combination with AR polymorphisms, have no functional effect on the activity of the PSA promoter in vitro and in vivo.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Genotype
  • Humans
  • In Vitro Techniques
  • Luciferases / metabolism
  • Male
  • Middle Aged
  • Palpation
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic / genetics
  • Prostate-Specific Antigen / blood
  • Prostate-Specific Antigen / genetics*
  • Prostatic Neoplasms / blood
  • Prostatic Neoplasms / diagnosis
  • Prostatic Neoplasms / genetics
  • Receptors, Androgen / genetics*
  • Response Elements / genetics
  • Transfection
  • Trinucleotide Repeats / genetics


  • Receptors, Androgen
  • Luciferases
  • Prostate-Specific Antigen