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</script>Cardiac Troponin T (TNNT2) Mutations in Chinese Dilated Cardiomyopathy Patients
Cardiac Troponin T (TNNT2) Mutations in Chinese Dilated Cardiomyopathy Patients
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 inTNNT2and the associations of those variations with DCM in Chinese patients.Methods. An approximately 4 kb fragment of theTNNT2gene was isolated from 103 DCM patients and 192 healthy controls and was analyzed by DNA sequence analysis for genetic variations.Results. A total of 6TNNT2mutations were identified in 99 patients, including a G321T missense mutation (Leu84Phe) and 5 novel intronic mutations. Alleles of two novel SNPs (c.192+353C>A, OR=0.095, 95% CI:0.013–0.714,P=0.022; c.192+463G>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+353C>A, c.192+463G>A) inTNNT2gene might be associated with DCM in the Chinese population.
- PEKING UNION MEDICAL COLLEGE China (People's Republic of)
- Mayo Clinic United States
- Hainan Normal University China (People's Republic of)
- Chinese Academy of Medical Sciences & Peking Union Medical College China (People's Republic of)
- Mayo Clinic United States
Cardiomyopathy, Dilated, Male, DNA Mutational Analysis, Mutation, Missense, Polymorphism, Single Nucleotide, Amino Acid Substitution, Asian People, Troponin T, Humans, Female, Alleles, Research Article
Cardiomyopathy, Dilated, Male, DNA Mutational Analysis, Mutation, Missense, Polymorphism, Single Nucleotide, Amino Acid Substitution, Asian People, Troponin T, Humans, Female, Alleles, Research Article
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