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SCN5A基因H558R多态性与特发性心脏传导障碍相关性的研究。

An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders.

作者信息

Nikulina Svetlana Y, Chernova Anna A, Shulman Vladimir A, Maksimov Vladimir N, Gavrilyuk Oksana A, Tretyakova Svetlana S, Marilovceva Olga V

机构信息

1 Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky of the Ministry of Healthcare of the Russian Federation , Krasnoyarsk, Russian Federation.

2 Therapy and Preventive Medicine Research Institute of the Siberian Branch of the Russian Academy of Medical Sciences , Novosibirsk, Russian Federation.

出版信息

Genet Test Mol Biomarkers. 2015 Jun;19(6):288-94. doi: 10.1089/gtmb.2015.0012. Epub 2015 Apr 14.

Abstract

AIM

The aim of this study was to investigate the predictive value of the rs1805124 polymorphism of the SCN5A gene with regard to idiopathic cardiac conduction disorders.

RESULTS

The AG genotype frequency was significantly higher in patients with an atrioventricular block (61,2%±6,0%) compared with healthy control subjects (34,8%±2,3%), p<0.0001. The AG genotype frequencies among patients with only idiopathic complete right bundle-branch block (CRBBB) (54,2%±5,5%) and those with both CLBBB and LAH (50%±5,1) were significantly higher than in the control group (34,8%±2,3%), p<0.005.

CONCLUSIONS

The AG genotype of the H558R (rs1805124) polymorphism of the SCN5A gene is a genetic predictor of idiopathic disorders of atrioventricular and intraventricular conduction.

摘要

目的

本研究旨在探讨SCN5A基因rs1805124多态性对特发性心脏传导障碍的预测价值。

结果

房室传导阻滞患者的AG基因型频率(61.2%±6.0%)显著高于健康对照者(34.8%±2.3%),p<0.0001。仅患有特发性完全性右束支传导阻滞(CRBBB)的患者(54.2%±5.5%)以及同时患有左束支传导阻滞和左前分支阻滞的患者(50%±5.1%)的AG基因型频率显著高于对照组(34.8%±2.3%),p<0.005。

结论

SCN5A基因H558R(rs1805124)多态性的AG基因型是房室和心室内传导特发性障碍的遗传预测指标。

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