Molecular genetic markers of prognosis in patients with chronic heart failure with preserved ejection fraction in conditions of comorbidity

Brain and atrial natriuretic peptides play a key role in the pathogenesis of chronic heart failure (CHF), therefore molecular genetic studies on the association of polymorphic variants of the genes of these hormones are of particular importance.

Objective - to study the associations of rs632793 polymorphisms of the NPPB gene and rs5065 of the NPPA gene with CHF in conditions of comorbidity.

Materials and methods. The study was carried out on the basis of the State Budgetary Healthcare Institution of the Novosibirsk Region "NOKGVV№3" in the period from 01.11.2022 to 01.12.2024 with the participation of 260 patients with a history of myocardial infarction (MI) and CHF with preserved ejection fraction. All participants underwent an assessment of clinical, anamnestic, laboratory and instrumental data at the beginning of the study and after 12 months. Within the framework of molecular genetic analysis, two single nucleotide polymorphisms (SNPs) were studied: rs632793 of the NPPB gene; rs5065 of the NPPA gene. Statistical analysis was performed in SPSS Statistics 28.0.1.0. Assessment of the significance of genetic factors included calculation of genotype and allele frequencies, testing of the distribution compliance with the Hardy-Weinberg equilibrium. Associations of polymorphisms were analyzed using the χ² (Pearson) criterion, odds ratio (OR) with 95% CI. Intergroup differences (≥3 groups) were assessed by the Kruskal-Wallis H-test. The significance level is p≤0.05.

Results. A significant association of the G/G rs5065 genotype with the development of recurrent MI (OR 5.139, 95% CI 1.593-16.583, p=0.003) and poor prognosis (OR 3.357; 95% CI 1.025-10.999; p=0.035) was revealed, as well as an association of the G allele (OR 1.805; 95% CI 1.159-2.813; p=0.009) with the risk of a negative outcome in patients of the study group. The presence of the G/G rs5065 genotype, T/C or C/C rs632793 genotype demonstrates an association with a higher concentration of NT-proBNP (p<0.001).

Conclusion. Integration of molecular genetic studies into clinical practice will improve the prognostic assessment of the course of CHF and develop personalized approaches to therapy, which in the long term will improve the quality of medical care.

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