Abstract—The vasovagal syncope (VVS) is the most common form of syncope. The mechanisms of VVS development are not entirely clear. It is known that there is a genetic predisposition to this disease, but the data on the roles of individual genes are quite contradictory. Recently, a genome-wide association study identified a locus at chromosome 2q32.1 associated with a united group of diseases, that is, syncope and collapse; among the single nucleotide polymorphisms (SNPs) of this locus, the most significant association was observed for rs12465214. In a homogeneous sample of patients diagnosed with VVS, we analyzed the association of rs12465214, rs12621296, rs17582219 and rs1344706 located on chromosome 2q32.1 with this form of syncope. In the enrolled set, only rs12621296 was associated with VVS by itself, whereas associations of other SNPs were observed only in biallelic combinations. An epistatic interaction between the components of the combination rs12621296*A + rs17582219*A was revealed. The possible involvement of individual genes on the 2q32.1 locus in the genetic architecture of the VVS is discussed.
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The study was carried out within the framework of the State task of the Chazov National Medical Research Center for Cardiology, the Ministry of Health of Russia (no. 121031300196-1).
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Statement of compliance with standards of research involving humans as subjects. Informed consent was obtained from all individuals participating in the study. The study was carried out in accordance with the Helsinki Declaration of 1964 and approved by the ethical committee of the Chazov National Medical Research Center for Cardiology of the Ministry of Health of Russia (protocol no. 252 of September 12, 2019).
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Abbreviations: VVS, vasovagal syncope; FLINT (Fisher-like interaction numeric test), an exact three-factor test, similar to the Fisher criterion; GWAS, genome-wide association studies; SF, synergy factor; SNP(s), single nucleotide polymorphism(s).
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Matveeva, N.A., Titov, B.V., Bazyleva, E.A. et al. Association of Polymorphic Genome Variants in the 2q32.1 Locus with the Development of Vasovagal Syncope. Mol Biol 57, 843–847 (2023). https://doi.org/10.1134/S0026893323050126
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DOI: https://doi.org/10.1134/S0026893323050126