JOINT INTERACTION OF SOD2, EDN1, AND eNOS GENE POLYMORPHISMS IN THE DEVELOPMENT OF CEREBROVASCULAR DISEASES

Аннотация

The article investigates the role of synergistic interactions between polymorphisms in the genes SOD2 (Ala16Val), EDN1 (Lys197Asn), and eNOS (T786C) in the development of cerebrovascular diseases (CVD). The primary focus emphasizes that the true pathogenetic significance of these genetic variants manifests not individually, but through their synergy. Results of the study: SOD2: The Val/Val genotype is significantly associated with a high risk of CVD (OR=3.3, p=0.01). The combination of Val/Val and Val/Ala genotypes further elevates the risk. EDN1: The Asn allele and Asn/Asn genotype show a potential association with increased CVD risk, characterized by high sensitivity (SE=0.71–0.81) but low specificity (SP=0.23–0.29), limiting their standalone diagnostic value. eNOS: The individual association of the T786C polymorphism with stroke is statistically insignificant (OR=0.88, p=0.65). The C/C and C/T genotypes exhibit low specificity (SP=0.25). Combined effect: The presence of one unfavorable genotype across any gene significantly increases CVD risk (OR=2.48, p=0.006). A clear trend of rising risk proportional to the number of unfavorable genotypes was observed. The most pronounced effect occurred with the combination of three unfavorable genotypes simultaneously (OR=2.92, p=0.061).