TY - JOUR
T1 - Cardiac troponin T (TNNT2) mutations in Chinese dilated cardiomyopathy patients
AU - Li, Xiaoping
AU - Luo, Rong
AU - Gu, Haiyong
AU - Deng, Yun
AU - Xu, Xiaolei
AU - Wu, Xiushan
AU - Hua, Wei
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
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U2 - 10.1155/2014/907360
DO - 10.1155/2014/907360
M3 - Article
C2 - 25110706
AN - SCOPUS:84904811103
SN - 2314-6133
VL - 2014
JO - BioMed Research International
JF - BioMed Research International
M1 - 907360
ER -