EDN1 GENE POLYMORPHISM AS A GENETIC PREDISPOSING FACTOR FOR UNSTABLE ANGINA

Unstable angina is one of the most clinically significant manifestations of ischemic heart disease, the devel­opment of which is determined by the interaction of endothelial dysfunction and genetic predisposition. The aim of the study was to investigate the association between the Lys198Asn (G>T) polymorphism of the EDN1 gene and the development of unstable angina. The distribution of alleles and genotypes of this polymorphism was assessed in patients with unstable angina and conditionally healthy individuals. Genotyping was performed using polymerase chain reaction with allele detection. The findings made it possible to assess the contribution of the Lys198Asn (G>T) polymorphism of the EDN1 gene to the formation of genetic predisposition to unstable angina. The study of molec­ular genetic factors may contribute to improving the early prediction of the risk of unstable angina and the develop­ment of a personalized approach to the prevention of cardiovascular diseases.

Objective. To investigate the association between the Lys198Asn (G>T) polymorphism of the EDN1 gene and the risk of developing unstable angina and to assess its potential role in the formation of genetic predisposition to this clinical variant of ischemic heart disease.

Materials and Methods. The study included 103 patients with unstable angina. The control group for genetic analysis consisted of conditionally healthy individuals with no history of ischemic heart disease or other cardiovascular diseases and no family history of the specified diseases. All participants underwent comprehensive clinical and an­amnestic, laboratory, and instrumental examinations. To investigate molecular genetic characteristics, genotyping of the Lys198Asn (G>T) polymorphism of the EDN1 gene was performed using polymerase chain reaction with allele detection. The frequencies of alleles and genotypes of the studied polymorphism were determined, and their distri­bution was comparatively analyzed between patients with unstable angina and conditionally healthy individuals. Sta­tistical data processing was performed using methods of variation statistics; differences were considered statistically significant at p < 0.05.

Results. The study revealed a statistically significant association between the Lys198Asn (G>T) polymorphism of the EDN1 gene and the development of progressive angina. Carriage of the minor Asn allele was associated with an increased risk of disease development. The heterozygous Lys/Asn and homozygous Asn/Asn genotypes were also associated with an increased likelihood of progressive angina, with the highest risk observed among carriers of the Asn/Asn genotype.

Conclusion. Thus, the Lys198Asn (G>T) polymorphism of the EDN1 gene may be considered a potential molecular genetic marker of predisposition to progressive angina and may be of interest for the early assessment of individual genetic risk for this clinical variant of ischemic heart disease.