Angiotensin Converting Enzyme (ACE) insertion/deletion (rs1799752) gene polymorphism and bladder cancer...

Bladder cancer (BC) is one of the most frequent malignancies of the urinary tract.

This study aimed to investigate the association between angiotensin-converting enzyme (ACE) I/D polymorphism (rs1799752) and bladder cancer risk in Egyptian patients.

Bladder cancer cases (n = 140) were diagnosed based on cystoscopy and confirmed by histopathological examination of biopsies. Fifty sex- and age-matched healthy individuals served as controls. Peripheral blood was used to extract the genomic DNA, and the ACE I/D (rs1799752) polymorphism was genotyped using polymerase chain reaction (PCR).

Genotype frequencies were comparable between groups (II:12% vs. 11.4%, ID: 76% vs. 74%, and DD: 12% vs14.3% in control and BC patients, respectively), with no significant difference in allele or genotype distributions (co-dominant model DD vs. II: OR 1.25, 95%CI 0.34-4.63, p = 0.751). However, within the patient group, the heterozygous genotype (ID) was significantly more prevalent in high grade tumors (P = 0.0177), muscle-invasive BC (MIBC, p = 0.0042), and poor prognosis cases (high grade + MIBC, P < 0.0017). The over-dominant model (ID vs. II + DD) showed a strong association with poor prognosis (OR = 4.8, 95%CI 1.96-11.78, p < 0.001). A trend toward higher ID frequency that did not reach statistical significance was observed in advanced stages (T3/T4, p = 0.058).

The ID genotype is strongly linked to the carcinogenesis of BC and with the poor prognosis, indicating its possible role as a predictive biomarker for risk assessment and progression in this population.