Genetic association of ACE insertion/deletion and CYP11B2 -344T/C polymorphisms with susceptibility to chronic kidney disease: a case-control study

Background Chronic kidney disease (CKD) is influenced by genetic and environmental factors. ACE I/D and CYP11B2 polymorphism have been associated with kidney disease, though their impact varies across studies. This study aimed to investigate the association of the ACE I/D and CYP11B2 -344T/C polymorphisms with susceptibility to CKD. Methods This case-control study included 200 CKD patients and 180 control subjects. Genotyping for ACE I/D and CYP11B2 polymorphism was performed by the Polymerase Chain Reaction and RFLP method, and allele and genotype frequencies were analysed using the chi-square test. In silico analysis was conducted using the AliBaba2.1 tool to assess the effect of ACE I/D and CYP11B2 polymorphism on transcription factor binding to DNA target sequences. Results No significant association was observed between the ACE DD genotype and CKD after adjustment for comorbidities, diet, and addiction [adjusted odds ratio (AOR) = 0.915, 95% confidence interval (CI) = 0.372–2.251, p = 0.847]. The CYP11B2 -344T/C CT genotype [AOR = 0.329, 95% CI = 0.148–0.732, p = 0.006] and dominant model (CT + CC) [AOR = 0.425, 95% CI = 0.211–0.854, p = 0.016] showed a significant association with CKD. Furthermore, ACE I/D but not CYP11B2 -344T/C polymorphism was significantly associated with variation in serum urea, creatinine, phosphorus, and eGFR levels in CKD patients ( p < 0.05). In silico analysis predicted potential loss of transcription factor binding sites in the D allele of ACE I/D and the C allele of CYP11B2-344T/C. Conclusions The findings suggest that the CYP11B2 -344T/C but not the ACE I/D polymorphisms may modulate susceptibility to CKD. The in silico analysis predicted allele-specific transcription factor binding alterations, implying regulatory functional relevance, warranting functional validation.