Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphism in Peripheral Arterial Occlusive Disease

Purpose: Peripheral Arterial Occlusive Disease (PAOD) is a vascular disease associated with high morbidity and mortality worldwide. The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism (rs4340) has been suggested as a potential risk factor for PAOD. This study aimed to examine the association of the ACE I/D polymorphism and PAOD risk in Bulgarian patients. Materials/Methods: This case-control study included 85 patients with PAOD and 394 controls. Genomic DNA was isolated from peripheral blood, and ACE genotyping was performed using classical end-point polymerase chain reaction. Results: ACE genotype frequencies were similar between PAOD patients (DD: 0.317; ID: 0.459; II:0.224) and controls (DD: 0.345; ID: 0.495; II: 0.160; p=0.368), as well as the allelic frequencies (p=0.274). Further analysis based on the clinical manifestation of the disease did not reveal a significant association with the ACE I/D polymorphism. However, a tendency for a higher frequency of the DD-genotype was observed among cases with arterial hypertension (0.348 vs. 0.188) or with atrophic changes (0.412 vs. 0.294), compared to patients without these conditions. Conclusion: There was no significant association between the ACE I/D polymorphism and the development of PAOD in the Bulgarian population. However, carrying the DD-genotype might contribute to the clinical characteristics of PAOD.