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中国孤立性房颤肺静脉肌袖发育基因PITX2的突变分析
Mutation analysis of pulmonary myocardium development gene PITX2 in Chinese patients with lone atrial fibrillation

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DOI:
作者:
马继芳,张睿,李硕,孙健,王群山,董洁,郑谷燕,丰明俊,陈晓敏,李毅刚
MA Ji-fang,ZHANG Rui,LI Yi-gang,et al
作者单位:
上海交通大学医学院
Shanghai JiaoTong University School of Medicine
关键词:
房颤；基因；突变；PITX2；转录因子
Atrial fibrillation；Gene；Mutation；PITX2；Transcription factor
摘要:
目的 房颤是临床最常见的心律失常，是导致脑卒中在内的其他心血管并发症的主要病因之一。对其发病机制的探索尚无定论。目前人们认为肺静脉肌袖是引发和维持房颤的常见异位起源点。PITX2是一个和心脏发育相关的转录因子，和肺静脉肌袖发育相关。本研究试图在孤立性房颤患者中进行PITX2基因的突变扫描，并分析突变患者的相应临床特点。 方法 对160例孤立性房颤患者和200名正常对照者的PITX2基因进行了突变扫描。采用聚合酶链反应扩增PITX2基因，通过单链构象多态性技术筛查突变，对发现异常的个体采用双脱氧核苷链末端合成终止法进行直接测序。采用Sequence scanner v1.0软件分析测序图。 结果 在两位永久性房颤患者分别发现了位于内含子区域的新改变g.766C>A和位于5’UTR区域的新改变g.8310C>T (c.-150C>T)。这两位携带者对药物及电复律治疗反应较差，在接受环肺静脉消融手术后，随诊一年未再复发。200名正常对照中未发现此改变。 结论 本研究首次在中国孤立性房颤患者中发现影响肺静脉肌袖发育基因PITX2的非编码区改变，该研究结果可能对我们进一步理解肺静脉肌袖在房颤的发病过程中的作用提供新的启示。
Objective Atrial fibrillation, as the most common type of cardiac arrhythmia, is a major cause of cardiovascular complications, especially stroke. It believes that pulmonary myocardium is the most frequent source of ectopic beats triggering atrial fibrillation. While PITX2 is a transcription factor involving in the development of pulmonary myocardium, our study aimed to screen mutations of PITX2 gene in lone atrial fibrillation and analyze clinical characteristics of probands with PITX2 variations. Methods One hundred and sixty patients with lone atrial fibrillation and two hundred age matched control subjects were enrolled. Exons of PITX2 gene were firstly amplified by polymerase chain reaction, then were screened by single strand conformation polymorphism analysis, and at last the abnormal patients were directly sequenced using the dideoxynucleotide chain termination DNA sequencing method. The software Sequence scanner v1.0 was used to identify the sequence data. Results We identified a novel intronic variant g.766C>A and a novel substitution g.8310C>T (c.-150C>T) locating in 5’UTR area of PITX2 gene respectively in two non-paroxysmal atrial fibrillation patients. These two patients were both resisted to drug and electrical conversion therapy, but they were cured by circumferential pulmonary vein ablation surgery after follow up for one year. Two novel variants were absent in two hundred control subjects. Conclusions Non-coding variations in PITX2 were demonstrated in Chinese lone atrial fibrillation patients for the first time worldwide, providing us a new insight into realizing the mechanisms of lone atrial fibrillation.

 

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