Evaluating the association of CYP17 and SRD5A2 gene polymorphisms with prostate cancer risk: A case-control study in the male population of Jammu, India

Prostate cancer (CaP) is one of the predominant malignancies affecting the male population, with genetic variations in steroid metabolism pathways potentially modulating disease susceptibility. This case-control investigation examined the potential correlation between CYP-17-MspA1I and SRD5A2-RsaI (V89L variant) polymorphisms and CaP risk within the male demographic of the Jammu region in the Jammu & Kashmir Union Territory of India. We genotyped these two polymorphisms in 120 prostate cancer cases and 200 age-matched healthy controls. Statistical analysis revealed a significant association between CYP-17-MspA1I polymorphism and CaP susceptibility, whereas the SRD5A2-RsaI (V89L variant) demonstrated no statistically significant correlation. The co-dominant model (A1A2 vs. A1A1; A2A2 vs. A1A1) and the dominant model (A1A2 + A2A2 vs. A1A1) of CYP-17 exhibited significant association with increased CaP risk. Notably, carriers of the A2 allele of the CYP-17 gene demonstrated a 1.6-fold elevated risk of developing CaP (p = 0.006). These findings contribute to our understanding of genetic susceptibility factors in prostate cancer, suggesting that CYP-17-MspA1I, but not SRD5A2-RsaI (V89L variant), may serve as a potential genetic marker for CaP risk assessment in this population. Further large-scale studies across diverse ethnic populations are warranted to validate these findings and elucidate the role of steroid metabolism-related genetic variants in CaP predisposition.