TNNT2 Gene Polymorphisms are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in Kazak and Han Chinese.
TNNT2 Gene Polymorphisms are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in Kazak and Han Chinese.
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TNNT2基因多态性与哈萨克族和汉族特发性扩张型心肌病易感性相关
DOI：
10.12659/msm.894630
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发表时间：
2015-11-03
期刊：
影响因子：
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通讯作者：
Tang BP
中科院分区：
文献类型：
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作者：
Li YD;Ji YT;Zhou XH;Li HL;Zhang HT;Xing Q;Hong YF;Tang BP
扩张型心肌病（DCM）的特征是左心室扩大、收缩功能障碍和心力衰竭。遗传和非遗传因素都与DCM的发病机制有关。家族性扩张型心肌病（FDCM）占所有扩张型心肌病病例的20%-50%，突出了遗传学在发病机制中的重要性。事实上，已经鉴定了40多个DCM相关基因，包括编码心肌肌钙蛋白T 2型（TNNT 2）的基因。我们检测了哈萨克族和汉族特发性DCM（IDCM）患者与健康哈萨克族和汉族对照组的TNNT 2基因多态性。收集180例IDCM患者（哈萨克族90例，汉族90例）和180例健康对照者（哈萨克族90例，汉族90例）的外周血。PCR扩增TNNT 2基因的15个外显子及其附近的内含子。对扩增产物进行测序，并与PubMed中的标准序列进行比较，通过BLAST和CHROMAS软件进行突变位点的鉴定。对哈萨克族和汉族IDCM患者的结果进行Hardy-Weinberg平衡分析。哈萨克族IDCM患者与对照组rs3729547基因型分布（χ2=6.67，P=0.015）和等位基因频率（χ2=5.71，P=0.017）差异有统计学意义。汉族IDCM组与对照组的基因型分布（χ2=6.62，P=0.036）和等位基因频率（χ2=4.91，P=0.018）也存在差异。TNNT 2基因多态性位点rs3729547可能与哈、汉族IDCM的发病有关（OR=2.5，95% CI：1.233~5.068）。TNNT 2基因多态性可能与新疆哈萨克族和汉族扩张型心肌病的易感性有关。
Dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement, systolic dysfunction, and heart failure. Both genetic and non-genetic factors have been linked to DCM pathogenesis. Familial DCM (FDCM) accounts for 20%–50% of all DCM cases, highlighting the importance of genetics in pathogenesis. Indeed, more than 40 DCM-associated genes have been identified, including the gene encoding cardiac troponin T type-2 (TNNT2). We examined polymorphisms of the TNNT2 gene in idiopathic DCM (IDCM) patients of Kazak and Han ethnicity compared with healthy Kazak and Han controls. Peripheral blood samples were collected from 180 patients with IDCM (90 Kazak and 90 Han), and 180 healthy controls (90 Kazak and 90 Han). PCR was used to amplify 15 exons and nearby introns of the TNNT2 gene. The amplified products were sequenced and compared to the standard sequence in PubMed by BLAST and CHROMAS software, to identify mutation sites. Results from Kazak and Han IDCM patients were complied for Hardy-Weinberg equilibrium analysis. There was a significant difference in the genotype distribution (χ2=6.67, P=0.015) and allele frequency (χ2=5.71, P=0.017) between Kazaks with IDCM and Kazak controls of SNP rs3729547. There was also a difference in the genotype distribution (χ2=6.62, P=0.036) and allele frequency (χ2=4.91, P=0.018) between Han with IDCM and Han controls. The TNNT2 gene polymorphism loci rs3729547 may be associated with the IDCM onset in Kazak and Han patients (OR=2.5, 95% CI: 1.233~5.068). The TNNT2 polymorphisms might play an important role in susceptibility to DCM in Xinjiang Kazak and Han patients.