探讨血管迷走性晕厥的遗传本质。
Towards Understanding the Genetic Nature of Vasovagal Syncope.
机构信息
National Medical Research Center for Cardiology, 121552 Moscow, Russia.
Department of Molecular Biology and Medical Biotechnology, Pirogov Russian National Research Medical University, 117997 Moscow, Russia.
出版信息
Int J Mol Sci. 2021 Sep 24;22(19):10316. doi: 10.3390/ijms221910316.
Abstract
Syncope, defined as a transient loss of consciousness caused by transient global cerebral hypoperfusion, affects 30-40% of humans during their lifetime. Vasovagal syncope (VVS) is the most common cause of syncope, the etiology of which is still unclear. This review summarizes data on the genetics of VVS, describing the inheritance pattern of the disorder, candidate gene association studies and genome-wide studies. According to this evidence, VVS is a complex disorder, which can be caused by the interplay between genetic factors, whose contribution varies from monogenic Mendelian inheritance to polygenic inherited predisposition, and external factors affecting the monogenic (resulting in incomplete penetrance) and polygenic syncope types.
摘要
晕厥是指由于短暂性全脑低灌注引起的意识丧失，一生中约有 30-40%的人会发生晕厥。血管迷走性晕厥（VVS）是晕厥最常见的原因，但其病因仍不清楚。本综述总结了 VVS 的遗传学数据，描述了该疾病的遗传模式、候选基因关联研究和全基因组研究。根据这些证据，VVS 是一种复杂的疾病，可能是由遗传因素相互作用引起的，其贡献范围从单基因孟德尔遗传到多基因遗传易感性，以及影响单基因（导致不完全外显）和多基因晕厥类型的外部因素。
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