Linkage between polymorphisms in the prostate specific antigen ARE1 gene region, prostate cancer risk, and circulating tumor cells

Prostate. 2002 Sep 15;53(1):88-94. doi: 10.1002/pros.10135.


Background: The prostate specific antigen (PSA) gene has a polymorphic androgen response element (ARE) sequence with two alleles, A and G. PSA A-allele carriers have higher serum PSA levels in healthy men (HM).

Methods: We analysed DNA samples from 278 (556 alleles) unrelated individuals, 127 HM and 151 prostate cancer (PC) patients, for PSA ARE1 genotypes.

Results: The analysis of the frequencies from the 556 alleles indicates a significant overrepresentation of A-allele in the PC group under the age of 67 compared with the HM group (63.3% vs. 48.8%; P = 0.009). We found that men carrying two A-alleles have increased risk for PC onset under the age of 67 (odds ratio [OR] = 2.92; 95% confidence interval [CI], 1.10-7.86; P = 0.013). Multivariate logistic regression analysis confirmed this association (OR = 1.82; 95% CI, 1.03-3.22; P = 0.037). Furthermore, the homozygosity for the A-allele was associated with higher serum PSA levels (P = 0.027) and with the presence of circulating tumor cells in the blood of PC patients (P = 0.018).

Conclusion: Our results indicate that polymorphism in the PSA gene promoter may be an important biomarker for prostate cancer risk, especially for an earlier onset of PC.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alleles
  • Biomarkers, Tumor / analysis
  • Case-Control Studies
  • DNA Primers
  • DNA, Neoplasm / genetics*
  • Humans
  • Male
  • Middle Aged
  • Odds Ratio
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic / genetics*
  • Prostate-Specific Antigen / blood
  • Prostate-Specific Antigen / genetics*
  • Prostatic Neoplasms / genetics*
  • Prostatic Neoplasms / pathology*
  • Regression Analysis
  • Risk Factors


  • Biomarkers, Tumor
  • DNA Primers
  • DNA, Neoplasm
  • Prostate-Specific Antigen