ASSOCIATION OF THE LYS198ASN (G>T) POLYMORPHISM OF THE EDN1 GENE WITH THE RISK OF DEVELOPING ISCHEMIC HEART DISEASE

Abstract

Ischemic heart disease is a multifactorial condition in which endothelial dysfunction and genetic predisposition play important roles. The present study assessed the Lys198Asn (G>T) polymorphism of the EDN1 gene, which en­codes endothelin-1, one of the key regulators of vascular tone and endothelial function, and investigated its associ­ation with the risk of developing ischemic heart disease. The findings made it possible to assess the association of different EDN1 genotypes with the development of ischemic heart disease. The study of molecular genetic factors associated with endothelial dysfunction may contribute to improving early prediction of ischemic heart disease risk and the development of a personalized approach to disease prevention and treatment.Objective. To investigate the association between the Lys198Asn (G>T) polymorphism of the EDN1 gene, which is involved in the regulation of endothelial function and vascular tone, and the risk of developing ischemic heart disease.Materials and Methods. The study included 210 patients with ischemic heart disease who were divided into two groups. The first group comprised 103 patients with unstable angina, including progressive angina. The second group included 107 patients with stable effort angina of functional class I–IV. 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. The study employed general clinical, biochemical, instrumental, mo­lecular genetic, and statistical methods.Results. The study revealed a statistically significant association between the Lys198Asn (G>T) polymorphism of the EDN1 gene and the risk of developing ischemic heart disease. Carriage of the minor Asn allele, particularly in the homozygous Asn/Asn genotype, was associated with an increased risk of ischemic heart disease. The heterozy­gous Lys/Asn genotype was also associated with an increased risk of disease development. In contrast, the major Lys allele and the homozygous Lys/Lys genotype were more frequent among conditionally healthy individuals and demonstrated a potentially protective association with the development of ischemic heart disease.Conclusion. The Lys198Asn (G>T) polymorphism of the EDN1 gene is associated with the risk of developing ischemic heart disease. Carriage of the minor Asn allele, as well as the Lys/Asn and Asn/Asn genotypes, is associated with increased susceptibility to the disease, whereas the Lys allele and Lys/Lys genotype may have a potentially protective effect. These findings suggest that the Lys198Asn (G>T) polymorphism of the EDN1 gene may be consid­ered a potential molecular genetic marker of individual risk for ischemic heart disease.