Association of SCN5A gene polymorphism with dilated cardiomyopathy

• Published in: Rat͡s︡ionalʹnai͡a︡ farmakoterapii͡a︡ v kardiologii Vol. 17; no. 4; pp. 564 - 569
• Main Authors: Nikulina, S. Yu, Kuznetsova, O. O., Chernova, A. A., Matyushin, G. V., Gurazheva, A. A., Maksimov, V. N.
• Format: Journal Article
• Language: English
• Published: Столичная издательская компания 03-09-2021
• Subjects: dilatation cardiomyopathy; gene scn5a; genetic polymorphism; genetic predisposition; heart failure; myocardial dilatation of ischemic origin; rs1805124
• ISSN: 1819-6446; 2225-3653
• DOI: 10.20996/18196446-2021-08-11

Subjects and methods.
The study included patients with IDC (group 1; n=111, 89.2% men, average age 51.7±9.7 years) and ICM (group 2; n=110, 91.5% men, average age 58.7±8.4 years). All patients (IDC and ICM) underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the group 1. And those patients who were reliably diagnosed with coronary artery disease were in the group 2, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. The control group (n=121, average age 53.6±4.8 years) included patients who had no manifestations of cardiovascular diseases. The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the A/G polymorphism of the
SCN5A
gene (rs1805124).
Results.
In the group with IDC 51.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype-40.5%, and the rare homozygous GG genotype-8.1%. In the control group 63.3% of patients were identified as carriers of a homozygous genotype by a common allele, and 33.5% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 3.2%. The analysis revealed a statistically significant decrease in the frequency of carrying the homozygous AA genotype in patients with IDC compared to the control group of the rs1805124 polymorphism of the
SCN5A
gene. In the group of patients with ICM, the А allele (69.5% vs. 80.1%, p=0.003) and the AA genotype (50.9% vs. 63.3%, p=0.030) were significantly less common than in the control group. The rare homozygous GG genotype was statically more common in patients with ICM compared to the control group (11.8% vs. 3.2%, p=0.004). Also, the G allele in the group of patients with ICM was detected statically significantly more often than in the control group (30.5% vs. 19.9%, p= 0.003).
Conclusion.
The polymorphic locus rs1805124 of the
SCN5A
gene is associated with both IDC and ICM. Homozygous genotype AA and allele A are conditionally protective factors for the development of these conditions in men.