Significant association of rare variant p.Gly8Ser in cardiac sodium channel beta 4-subunit SCN4B with atrial fibrillation

Xiong Hongbo; Yang Qin; Zhang Xiaoping; Wang Pengxia; Chen Feifei; Liu Ying; Wang Pengyun; Zhao Yuanyuan; Li Sisi; Huang Yufeng; Chen Shanshan; Wang Xiaojing; Zhang Hongfu; Yu Dong; Tan Chencheng; Fang Cheng; Huang Yuan; Wu Gang; Wu Yanxia; Cheng Xiang; Liao Yuhua; Zhang Rongfeng; Yang Yanzong; Ke Tie; Ren Xiang; Li Hui; Tu Xin; Xia Yunlong; Xu Chengqi; Chen Qiuyun; Wang Qing K.

首页> 外文期刊>Annals of Human Genetics >Significant association of rare variant p.Gly8Ser in cardiac sodium channel beta 4-subunit SCN4B with atrial fibrillation

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Significant association of rare variant p.Gly8Ser in cardiac sodium channel beta 4-subunit SCN4B with atrial fibrillation

机译：罕见变体P.Gly8ser在心肌钠通道β4-亚单位SCN4B中的显着关联，心房颤动

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Atrial fibrillation (AF) affects 33.5 million individuals worldwide. It accounts for 15% of strokes and increases risk of heart failure and sudden death. The voltage-gated cardiac sodium channel complex is responsible for the generation and conduction of the cardiac action potential, and composed of the main pore-forming alpha-subunit Na(v)1.5 (encoded by the SCN5A gene) and one or more auxiliary beta-subunits, including Na-v beta 1 to Na-v beta 4 encoded by SCN1B to SCN4B, respectively. We and others identified loss-of-function mutations in SCN1B and SCN2B and dominant-negative mutations in SCN3B in patients with AF. Three missense variants in SCN4B were identified in sporadic AF patients and small nuclear families; however, the association between SCN4B variants and AF remains to be further defined. In this study, we performed mutational analysis in SCN4B using a panel of 477 AF patients, and identified one nonsynonymous genomic variant p.Gly8Ser in four patients. To assess the association between the p.Gly8Ser variant and AF, we carried out case-control association studies with two independent populations (944 AF patients vs. 9,81 non-AF controls in the first discovery population and 732 cases and 1,291 controls in the second replication population). Significant association was identified in the two independent populations and in the combined population (p = 4.16 x 10(-4), odds ratio [OR] = 3.14) between p.Gly8Ser and common AF as well as lone AF (p = 0.018, OR = 2.85). These data suggest that rare variant p.Gly8Ser of SCN4B confers a significant risk of AF, and SCN4B is a candidate susceptibility gene for AF.

机译：心房颤动（AF）影响全世界3350万人。它占15％的笔触，增加了心力衰竭和猝死的风险。电压门控心脏钠通道复合物负责生成和传导心脏作用电位，并由主孔形成α-亚基Na（V）1.5（由SCN5A基因编码）和一种或多种辅助β组成-subunits，包括SCN1B对SCN4B编码的NA-Vβ1至NA-V BETA 4。我们和其他人在AF中的患者中鉴定了SCN1B和SCN2B中的功能突变和SCN2B和SCN3B中的显性阴性突变。 SCN4B中的三种畸形变种在零星AF患者和小核家庭中鉴定出来;然而，SCN4B变体和AF之间的关联仍有待进一步定义。在这项研究中，我们使用477例AF患者的面板在SCN4B中进行了突变分析，并在四名患者中鉴定了一种非纯粹的基因组变体P.gly8Ser。评估P.GLY8SER变体和AF之间的关联，我们进行了两种独立群体的病例控制协会研究（944例AF患者与9,81患者在第一个发现人口中的432例和1,291例控制中第二复制人口）。在两个独立的群体和合并的人群中鉴定了重要关联（P = 4.16×10（-4），P.Gly8ser和常见的AF以及孤机之间的赔率比[或] = 3.14）以及孤机器（P = 0.018，或= 2.85）。这些数据表明，SCN4B的稀有变体P.Gly8ser赋予AF的显着风险，SCN4B是AF的候选敏感性基因。

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来源
《Annals of Human Genetics》 |2019年第4期|共10页
作者
Xiong Hongbo; Yang Qin; Zhang Xiaoping; Wang Pengxia; Chen Feifei; Liu Ying; Wang Pengyun; Zhao Yuanyuan; Li Sisi; Huang Yufeng; Chen Shanshan; Wang Xiaojing; Zhang Hongfu; Yu Dong; Tan Chencheng; Fang Cheng; Huang Yuan; Wu Gang; Wu Yanxia; Cheng Xiang; Liao Yuhua; Zhang Rongfeng; Yang Yanzong; Ke Tie; Ren Xiang; Li Hui; Tu Xin; Xia Yunlong; Xu Chengqi; Chen Qiuyun; Wang Qing K.;
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作者单位

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Shanghai Jiao Tong Univ Shanghai Canc Inst Ren Ji Hosp State Key Lab Oncogenes &

Related Genes;

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Dalian Med Univ Dept Cardiol Affiliated Hosp 1 Dalian Peoples R China;

Dalian Med Univ Dept Cardiol Affiliated Hosp 1 Dalian Peoples R China;

Huazhong Univ Sci &

Technol Liyuan Hosp Tongji Med Coll Wuhan Hubei Peoples R China;

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Wuhan Univ Peoples Hosp Dept Cardiol Wuhan Hubei Peoples R China;

First Affiliated Hosp Wuhan City Dept Cardiol Wuhan Hubei Peoples R China;

Huazhong Univ Sci &

Technol Union Hosp Dept Cardiol Tongji Med Coll Wuhan Hubei Peoples R;

Huazhong Univ Sci &

Technol Union Hosp Dept Cardiol Tongji Med Coll Wuhan Hubei Peoples R;

Dalian Med Univ Dept Cardiol Affiliated Hosp 1 Dalian Peoples R China;

Dalian Med Univ Dept Cardiol Affiliated Hosp 1 Dalian Peoples R China;

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Dalian Med Univ Dept Cardiol Affiliated Hosp 1 Dalian Peoples R China;

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

Cleveland Clin Lerner Res Inst Dept Mol Cardiol Dept Cardiovasc Med Cleveland OH 44106 USA;

Huazhong Univ Sci &

Technol Key Lab Mol Biophys Ctr Human Genome Res Minist Educ Coll Life Sci &

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正文语种 eng
中图分类医学遗传学;
关键词
atrial fibrillation; case-control association study; genetics; single-nucleotide polymorphism (SNP); sodium channel beta 4-subunit (SCN4B);

机译：心房颤动;病例控制协会研究;遗传学;单核苷酸多态性（SNP）;钠通道β4-亚基（SCN4B）;

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专利

1. Significant association of rare variant p.Gly8Ser in cardiac sodium channel beta 4-subunit SCN4B with atrial fibrillation [J] . Xiong Hongbo, Yang Qin, Zhang Xiaoping, Annals of Human Genetics . 2019,第Pta4期

机译：罕见变体P.Gly8ser在心肌钠通道β4-亚单位SCN4B中的显着关联，心房颤动
2. Identification of rare variants in cardiac sodium channel beta 4-subunit gene SCN4B associated with ventricular tachycardia [J] . Yang Qin, Xiong Hongbo, Xu Chengqi, Molecular genetics and genomics: MGG . 2019,第4期

机译：鉴定心室心动过缓相关的心脏钠通道β4-亚基基因SCN4B罕见变体
3. Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. [J] . Darbar D, Kannankeril PJ, Donahue BS, Circulation: An Official Journal of the American Heart Association . 2008,第15期

机译：心钠通道（SCN5A）变异与房颤相关。
4. Atrial-Selective Sodium Channel Blockas a Strategy for Suppressionof Atrial Fibrillation [C] . ALEXANDER BURASHNIKOV, JOSEM.DI DIEGO, ANDREWC.ZYGMUNT, Larry Horti Fairberg Workshop on Control and Regulation of Transport Phenomena in Biological Systems with Special Emphasis on the Cardiac System . 2008

机译：心房选择性钠通道阻止了一种抑制心房颤动的策略
5. Cardiac ablation as the initial therapy for symptomatic atrial fibrillation results in less recurrance of atrial fibrillation when compared to antiarrhythmic therapy [D] . Mikhli, Erica 2011

机译：与抗心律失常治疗相比，心脏消融作为症状性心房颤动的初始治疗导致心房颤动的较少复发
6. Significant association of rare variant p.Gly8Ser in cardiac sodium channel β4-subunit SCN4B with atrial fibrillation [O] . Hongbo Xiong, Qin Yang, Xiaoping Zhang, -1

机译：心脏钠通道β4亚基SCN4B中罕见的p.Gly8Ser变体与心房纤颤的相关性
7. Rare variants in genes encoding the cardiac sodium channel and associated compounds and their impact on outcome of catheter ablation of atrial fibrillation. [O] . Daniela Husser, Laura Ueberham, Gerhard Hindricks, 2017

机译：编码心脏钠通道和相关化合物的基因中的罕见变异体及其对心房颤动导管消融结果的影响。

Significant association of rare variant p.Gly8Ser in cardiac sodium channel beta 4-subunit SCN4B with atrial fibrillation

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