Association among polymorphisms in the steroid 5α-reductase type II (SRD5A2) gene, prostate cancer risk, and pathologic characteristics of prostate tumors in an Ecuadorian population

Androgens are essential to normal prostate growth and development. It is therefore possible that polymorphisms in the androgen synthesis gene 5α-reductase type II (SRD5A2) may be involved in the progression of prostate tumors. We evaluated the relationship of two single-nucleotide polymorphisms, A49T and V89L, with prostate cancer risk in a case–control study. A total of 114 prostate cancer patients and 144 healthy control males were genotyped. We found highly significant differences between the two polymorphisms, the risk of developing prostate cancer, and some of the clinical-pathologic characteristics. Individuals who carry at least one V allele may have a higher risk of developing prostate cancer [odds ratio (OR) = 7.5, 95% confidence interval (CI) = 2.57–22.08, P<0.001]. In addition, individuals with LL genotype showed reduction in the progression to a higher tumor stage (OR = 0.10, 95%CI = 0.040–0.27, P<0.001). The A49T substitution was associated with a higher pTNM stage (OR = 2.87, 95%CI 1.14–7.21, P = 0.003) and elevated Gleason grade (OR = 3.14, 95%CI = 1.12–8.78; P = 0.004). Furthermore, the allelic frequencies of the A49T variant (33% controls and 45% cases) are the highest reported worldwide. These findings suggest that among the Ecuadorian population, these polymorphisms influence the risk of developing prostate cancer.