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.

摘要— 血管迷走性晕厥 (VVS) 是最常见的晕厥形式。VVS 发展的机制尚不完全清楚。众所周知，这种疾病存在遗传倾向，但有关单个基因作用的数据却相当矛盾。最近，一项全基因组关联研究确定了染色体 2q32.1 上的一个位点与一组联合疾病相关，即晕厥和虚脱；在该位点的单核苷酸多态性 (SNP) 中，观察到最显着的关联是 rs12465214。在诊断为 VVS 的患者的同质样本中，我们分析了位于染色体 2q32.1 上的 rs12465214、rs12621296、rs17582219 和 rs1344706 与这种晕厥的关联。在登记组中，只有 rs12621296 本身与 VVS 相关，而其他 SNP 的关联仅在双等位基因组合中观察到。揭示了组合 rs12621296*A + rs17582219*A 的成分之间的上位相互作用。讨论了 2q32.1 基因座上的单个基因可能参与 VVS 遗传结构的情况。