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2q32.1基因座多态性基因组变异与血管迷走性晕厥发生的关联

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

作者信息

Matveeva N A, Titov B V, Bazyleva E A, Kuchinskaya E A, Kozin M S, Favorov A V, Pevzner A V, Favorova O O

机构信息

Chazov National Medical Research Center for Cardiology of the Ministry of Health of Russia, Moscow, 121552 Russia.

Pirogov Russian National Research Medical University of the Ministry of Health of Russia, Moscow, 117997 Russia.

出版信息

Mol Biol (Mosk). 2023 Sep-Oct;57(5):827-832.

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 rs12621296A + rs17582219A 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的发病机制尚不完全清楚。已知这种疾病存在遗传易感性,但关于单个基因作用的数据相当矛盾。最近,一项全基因组关联研究在2号染色体q32.1区域确定了一个与一组联合疾病相关的位点,即晕厥和虚脱;在该位点的单核苷酸多态性(SNP)中,rs12465214的关联性最为显著。在诊断为VVS的患者同质样本中,我们分析了位于2号染色体q32.1上的rs12465214、rs12621296、rs17582219和rs1344706与这种晕厥形式的关联性。在入组人群中,仅rs12621296自身与VVS相关,而其他SNP的关联性仅在双等位基因组合中观察到。揭示了rs12621296A + rs17582219A组合成分之间的上位性相互作用。讨论了2q32.1位点上的单个基因可能参与VVS遗传结构的情况。

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