title: Cardiac troponin T (TNNT2) mutations in chinese dilated cardiomyopathy patients.
abstract: 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.
authors.affiliation: Cardiac Arrhythmia Center, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China ; Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, China.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Li
authors.affiliation: The Center of Heart Development, Key Lab of MOE for Development Biology and Protein Chemistry, College of Life Science, Hunan Normal University, Changsha, Hunan 410081, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Luo
authors.affiliation: Department of Cardiothoracic Surgery, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China.
authors.forename: Haiyong
authors.initials: H
authors.lastname: Gu
authors.affiliation: The Center of Heart Development, Key Lab of MOE for Development Biology and Protein Chemistry, College of Life Science, Hunan Normal University, Changsha, Hunan 410081, China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Deng
authors.affiliation: Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
authors.forename: Xiaolei
authors.initials: X
authors.lastname: Xu
authors.affiliation: The Center of Heart Development, Key Lab of MOE for Development Biology and Protein Chemistry, College of Life Science, Hunan Normal University, Changsha, Hunan 410081, China.
authors.forename: Xiushan
authors.initials: X
authors.lastname: Wu
authors.affiliation: Cardiac Arrhythmia Center, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Hua
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D044466:Asian People; D002311:Cardiomyopathy, Dilated / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D020107:Troponin T / Q000235:genetics*
chemical_list: C545568:TNNT2 protein, human; D020107:Troponin T
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