Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel.
Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel.
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DOI：
10.4238/2013.october.10.4
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发表时间：
2013-10
期刊：
影响因子：
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通讯作者：
H. Xi;J. Liu;Lei Li;J. Wan
中科院分区：
文献类型：
--
作者：
H. Xi;J. Liu;Lei Li;J. Wan
ATP敏感性钾通道在心肌电活动中起重要作用。这些通道的遗传破坏使心肌易患心脏病。在此我们研究了位于ATP敏感性钾通道Kir6.2亚基的两个多态性E23 K和I337 V是否与中国人群中扩张型心肌病（DCM）相关。从DCM患者和对照组收集血液。提取DNA进行聚合酶链反应，然后进行DNA测序。2种基因多态性在DCM患者和正常对照组中均存在。E23K和I337V基因多态性在DCM患者和正常对照组之间的频率差异无统计学意义。携带E23K基因多态性的DCM患者左室舒张末期内径（LVEDD）和左房内径（LAD）显著大于不携带E23K基因多态性的DCM患者。E23K基因多态性也使DCM患者室性心律失常的发生率略有增加（P < 0.05）。我们未能确定I337V多态性与DCM患者的LVEDD、LAD或室性心律失常之间的相关性。Kir6.2 E23K基因多态性可能通过影响左室舒张末内径（LVEDD）和左室前降支（LAD）而增加汉族DCM患者发生充血性心力衰竭和心源性猝死等不良结局的风险。
ATP-sensitive potassium channels play an important role in myocardial electrical activity. Genetic disruption of these channels predisposes the myocardium to cardiac diseases. Herein we investigated whether two polymorphisms, E23K and I337V, located in the Kir6.2 subunit of ATP-sensitive potassium channels are associated with dilated cardiomyopathy (DCM) in a Chinese population. Blood was collected from DCM patients and controls. DNA was extracted for polymerase chain reaction, which was followed by DNA sequencing. The 2 polymorphisms were present in both DCM patients and normal controls. The frequencies of both the E23K and the I337V polymorphisms were not significantly different between DCM patients and normal controls. However, in DCM patients carrying the E23K polymorphism, the left ventricular end diastolic dimension (LVEDD) and the left atrial dimension (LAD) were significantly greater than those in DCM patients without the E23K polymorphism. Moreover, the occurrence of ventricular arrhythmias in DCM patients was also slightly increased in the presence of the E23K polymorphism (P < 0.05). We failed to identify an association between the I337V polymorphism and LVEDD, LAD, or ventricular arrhythmias in patients with DCM. The Kir6.2 E23K polymorphism in DCM patients of Han ethnicity may increase the risk of negative outcomes such as congestive heart failure and sudden cardiac death by affecting LVEDD and LAD.