Cardiac troponin T (TNNT2) mutations in chinese dilated cardiomyopathy patients.
Cardiac troponin T (TNNT2) mutations in chinese dilated cardiomyopathy patients.
复制标题
中国扩张型心肌病患者心肌肌钙蛋白 T (TNNT2) 突变
DOI：
10.1155/2014/907360
复制
发表时间：
2014
影响因子：
--
通讯作者：
Hua W
中科院分区：
文献类型：
--
作者：
Li X;Luo R;Gu H;Deng Y;Xu X;Wu X;Hua W
背景。扩张型心肌病（DCM）是心力衰竭的主要原因之一，具有高发病率和死亡率。尽管已报道超过 40 个基因可导致 DCM，但基因检测在临床实践中的作用尚不明确。肌钙蛋白 T (TNNT2) 基因突变代表了与 DCM 相关的已知致病突变的一个重要子集。因此，本研究的目的是确定中国患者 TNNT2 的遗传变异以及这些变异与 DCM 的关联。方法。从 103 名 DCM 患者和 192 名健康对照中分离出大约 4kb 的 TNNT2 基因片段，并通过 DNA 序列分析来分析遗传变异。结果。在 99 名患者中总共鉴定出 6 个 TNNT2 突变，包括 G321T 错义突变 (Leu84Phe) 和 5 个新的内含子突变。两个新 SNP 的等位基因（c.192 + 353 C>A，OR = 0.095，95% CI：0.013–0.714，P = 0.022；c.192 + 463 G>A，OR = 0.090，95% CI：0.012–0.675，P = 0.019）和 SNP rs3729843（或 = 1.889，95% CI：1.252–2.852； P = 0.002）与 DCM 显着相关。结论。 These results suggest that the missense mutation (Leu84Phe) and two novel SNPs (c.192 + 353 C>A, c.192 + 463 G>A) in TNNT2 gene might be associated with DCM in the Chinese population.
Background. Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure with high morbidity and mortality. Although more than 40 genes have been reported to cause DCM, the role of genetic testing in clinical practice is not well defined. Mutations in the troponin T (TNNT2) gene represent an important subset of known disease-causing mutations associated with DCM. Therefore, the aim of the present study was to determine the genetic variations in TNNT2 and the associations of those variations with DCM in Chinese patients. Methods. An approximately 4 kb fragment of the TNNT2 gene was isolated from 103 DCM patients and 192 healthy controls and was analyzed by DNA sequence analysis for genetic variations. Results. A total of 6 TNNT2 mutations were identified in 99 patients, including a G321T missense mutation (Leu84Phe) and 5 novel intronic mutations. Alleles of two novel SNPs (c.192 + 353 C>A, OR = 0.095, 95% CI: 0.013–0.714, P = 0.022; c.192 + 463 G>A, OR = 0.090, 95% CI: 0.012–0.675, P = 0.019) and SNP rs3729843 (OR = 1.889, 95% CI: 1.252–2.852; P = 0.002) were significantly correlated with DCM. Conclusions. These results suggest that the missense mutation (Leu84Phe) and two novel SNPs (c.192 + 353 C>A, c.192 + 463 G>A) in TNNT2 gene might be associated with DCM in the Chinese population.
登录
查看更多内容
DOI：
10.1161/circgenetics.108.846733
发表时间：
2009-08
期刊：
Circulation. Cardiovascular genetics
影响因子：
--
作者：
Hershberger RE;Pinto JR;Parks SB;Kushner JD;Li D;Ludwigsen S;Cowan J;Morales A;Parvatiyar MS;Potter JD
通讯作者：
Potter JD
影响因子：
--
作者：
Li X;Wang H;Luo R;Gu H;Zhang C;Zhang Y;Hui R;Wu X;Hua W
通讯作者：
Hua W
影响因子：
15.9
作者：
Mogensen, J;Kubo, T;McKenna, WJ
通讯作者：
McKenna, WJ
影响因子：
2.3
作者：
Dellefave L;McNally EM
通讯作者：
McNally EM
影响因子：
4.8
作者：
POTTER, JD;SHENG, ZL;ZHAO, JJ
通讯作者：
ZHAO, JJ