Association between CYP17A1 and HSD3B1 gene polymorphisms and testosterone levels in Nigerian prostate cancer patients

Prostate cancer (PCa) is a primary global health concern and the leading cause of cancer-related deaths in men. Genetic variation in androgen pathways is essential in PCa development and progression. Cytochrome P450 17A1 (CYP17A1) gene encodes a critical metabolic enzyme involved in testosterone (TT) synthesis, as it converts cholesterol into androstenedione. Similarly, the 3β-hydroxysteroid dehydrogenase type 1 (HSD3B1) gene encodes an enzyme that catalyses the conversion of dehydroepiandrosterone (DHEA) to androstenedione, a critical precursor for TT production. The case-control study was conducted on 40 PCa patients and 40 healthy males with matching ages. Detection of CYP17A1 and HSD3B1 polymorphisms was done using the TaqMan genotyping assay, and estimation of TT levels in serum was done using the enzyme-linked immunosorbent assay technique. Detected genotypes were AA, AG, and GG for CYP17A1, and AA and CA for HSD3B1; the adrenal-permissive CC genotype of HSD3B1 was absent. The TT levels were significantly lower in PCa patients (p = 0.00148). No significant associations were found between polymorphisms in CYP17A1, HSD3B1 and TT levels. The HSD3B1 CA genotype showed a non-significant trend toward increased PCa risk (OR = 2.39, p = 0.183) that requires validation in larger studies before any clinical relevance can be established.