Investigation of the effect of the rs692243 polymorphism of the PRKAG3 gene on the development of WPW syndrome
Year: 2025
Type: article
Study design: Observational Study
Abstract: Objective: to identify the association of polymorphic allelic variant rs692243 of the PRKAG3 gene with the development of WPW syndrome. Materials and methods: the study included 200 patients with WPW syndrome. To conduct the case–control study, a control group of 200 volunteers of comparable age and gender was selected, whose observation and health status were assessed during the WHO international projects «MONICA» and «HAPPIE». Comprehensive examination of patients included clinical, laboratory and instrumental studies. Diagnostic instrumental studies: electrocardiography (ECG), Holter ECG monitoring (XM-ECG), echocardiography (EchoCG), All patients of the main and control groups underwent a molecular genetic study. The phenol-chloroform DNA extraction technique was used in our patients. PCR-RDF analysis (polymerase chain reaction-restriction fragment length polymorphism) is a standard genotyping method for the study of the PRKAG3 gene. Statistical data processing was carried out using the Excel application software package, Statistica for Windows 10.0, IBM SPSS 20. The statistical significance in the analysis of the frequencies of alleles and genotypes of the PRKAG3 gene between the main and control groups was verified using the criterion χ2. The indicator of the relative risk of WPW syndrome for certain alleles and genotypes was identified as the odds ratio (OR). To carry out a one-factor logistic regression analysis, a step-by-step inclusion of indicators was carried out, which showed significant differences at the level of 0.1. Results: significant differences in the frequencies of genotypes and alleles for rs692243 of the PRKAG3 gene were found when comparing patients with WPW syndrome with those in the control group. The revealed frequency of the CC rs692243 genotype of the PRKAG3 gene in the main group of subjects was 8% (16 people), in the group of healthy volunteers -2% (4 people) (p <0.0001). The identified frequencies of the C rs692243 allele of the PRKAG3 gene also differed statistically significantly among individuals in the main and control groups. The predominance of carriers of the rare C allele among the patients of the main group was revealed -4% (17 people) compared to the control group, -2% (5 people), (p <0.001). Carriers of the C allele had a 1.605–fold higher risk of developing WPW syndrome compared with healthy volunteers (95% confidence interval 1.475-1.771; p <0.001) compared with carriers of the G allele. Conclusion: the revealed associations of the single nucleotide variant rs629243 of the PRKAG3 gene with the development of WPW syndrome prove the risky influence of the CC genotype and the C allele on the development of this pathology.
Institution: Krasnoyarsk State Medical University
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4412365377