[Association of Polymorphic Genome Variants in the 2q32.1 Locus with the Development of Vasovagal Syncope].

N A Matveeva, B V Titov, E A Bazyleva, E A Kuchinskaya, M S Kozin, A V Favorov, A V Pevzner, O O Favorova
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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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【2q32.1基因座多态性基因组变异与血管性晕厥发生的关联】。
血管迷走性晕厥(VVS)是最常见的晕厥形式。VVS的发展机制尚不完全清楚。众所周知,这种疾病有遗传易感性,但关于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上的一个基因座,该基因座与一组统一的疾病有关,即晕厥和虚脱;在该基因座的单核苷酸多态性(SNPs)中,rs12465214的相关性最为显著。在诊断为VVS的患者的同质样本中,我们分析了染色体2q32.1上的rs12465214、rs12621296、rs17582219和rs1344706与这种形式的晕厥的关系。在入选组中,只有rs12621296本身与VVS相关,而其他SNPs的关联仅在双等位基因组合中观察到。揭示了rs12621296*A+rs17582219*A组合的组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的遗传结构。
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来源期刊
Molekulyarnaya Biologiya
Molekulyarnaya Biologiya Medicine-Medicine (all)
CiteScore
0.70
自引率
0.00%
发文量
131
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