Vol 57(2023) N 5 p. 843-847; DOI 10.1134/S0026893323050126
N.A. Matveeva1,2*, B.V. Titov1,2, E.A. Bazyleva1, E.A. Kuchinskaya1, M.S. Kozin1,2, A.V. Favorov3, A.V. Pevzner1, O.O. Favorova1,2
Association of Polymorphic Genome Variants in the 2q32.1 Locus with the Development of Vasovagal Syncope1Chazov National Medical Research Center for Cardiology of the Ministry of Health of Russia, Moscow, 121552 Russia
2Pirogov Russian National Research Medical University of the Ministry of Health of Russia, Moscow, 117997 Russia
3Johns Hopkins School of Medicine, Baltimore, MD, 21205 United States
Received - 2023-04-28; Revised - 2023-05-10; Accepted - 2023-05-10
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.
genetic polymorphism, genetic predisposition, syncope, vasovagal syncope