title: TNNT2 Gene Polymorphisms are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in Kazak and Han Chinese.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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
  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).
  
  
  CONCLUSIONS
  The TNNT2 polymorphisms might play an important role in susceptibility to DCM in Xinjiang Kazak and Han patients.
authors.affiliation: Department of Pacing and Electrophysiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China (mainland).
authors.forename: Yao-Dong
authors.initials: YD
authors.lastname: Li
authors.affiliation: Department of Pacing and Electrophysiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China (mainland).
authors.forename: Yu-Tong
authors.initials: YT
authors.lastname: Ji
authors.affiliation: Department of Pacing and Electrophysiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China (mainland).
authors.forename: Xian-Hui
authors.initials: XH
authors.lastname: Zhou
authors.affiliation: Heart Rhythm Institute and Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
authors.forename: Hong-Liang
authors.initials: HL
authors.lastname: Li
authors.affiliation: Department of Cardiology, People's Hospital of Burqin County, Urumqi, Xinjiang, China (mainland).
authors.forename: Hong-Tao
authors.initials: HT
authors.lastname: Zhang
authors.affiliation: Department of Pacing and Electrophysiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China (mainland).
authors.forename: Qiang
authors.initials: Q
authors.lastname: Xing
authors.affiliation: Department of Pacing and Electrophysiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China (mainland).
authors.forename: Yi-Fan
authors.initials: YF
authors.lastname: Hong
authors.affiliation: Department of Pacing and Electrophysiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China (mainland).
authors.forename: Bao-Peng
authors.initials: BP
authors.lastname: Tang
mesh_terms: D000328:Adult; D000368:Aged; D002311:Cardiomyopathy, Dilated / Q000208:ethnology* / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D019295:Computational Biology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012984:Software; D020107:Troponin T / Q000235:genetics* / Q000502:physiology
chemical_list: C545568:TNNT2 protein, human; D020107:Troponin T