Molecular genetic polymorphisms C786T of the eNOS gene and LYS198ASN of the END1 gene in diabetic foot syndrome

Abstract

Background. Diabetic foot syndrome is one of the complications of diabetes mellitus, which could result inthe development of purulent-necrotic lesions of soft tissues or amputation. Nitric oxide and endothelin-1 plays key role in endothelium dysfunction, thus contributing to the pathogenesis. Objective. To evaluate the frequency of genotypes of the C786T polymorphism of the eNOS gene and the LYS198ASN polymorphism of the END1 gene in a group of patients with diabetic foot syndrome and a group of healthy donors living in the Trans-Baikal Territory. Design and methods. In 100 healthy individuals and 198 patients with a mixed form of diabetic foot syndrome, polymorphisms were studied by PCR. The statistical significance of differences was assessed using Pearson’s chi-square test. Results. The C/C and T/T genotypes of the C786T polymorphism of the eNOS gene were more common in patients (1.2 times and 2.1 times, respectively), while the incidence of the C/T genotype was 1.4 times lower. The LYS/LYS genotype of the LYS198ASN polymorphism of the END1 gene was more frequently observed in the control group, while K/N and ASN/ASN genotype was detected 1.7 and 2.2 times more often in the patients, respectively. Conclusion. Frequency differences in genotypes of the polymorphisms of eNOS and END1 genes in patients with diabetic foot syndrome and healthy individuals confirm their contribution to the endothelial dysfunction.