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Significance of sarcomere gene mutation in patients with dilated cardiomyopathy.
Li, Y D; Ji, Y T; Zhou, X H; Li, H L; Zhang, H T; Zhang, Y; Li, J X; Xing, Q; Zhang, J H; Hong, Y F; Tang, B P.
Afiliação
  • Li YD; Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University.
  • Ji YT; Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University.
  • Zhou XH; Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University.
  • Li HL; Heart Rhythm Institute and Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK.
  • Zhang HT; Cardiology Department, People's Hospital of Burqin County, Urumqi, Xinjiang, China.
  • Zhang Y; Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University.
  • Li JX; Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University.
  • Xing Q; Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University.
  • Zhang JH; Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University.
  • Hong YF; Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University.
  • Tang BP; Pacing and Electrophysiology Department, The First Affiliated Hospital of Xinjiang Medical University.
Genet Mol Res ; 14(3): 11200-10, 2015 Sep 22.
Article em En | MEDLINE | ID: mdl-26400351
Dilated cardiomyopathy (DCM) is a myocardial disease with a high mortality rate. Approximately 40 genes have been found to be associated with DCM to date. Non-familial DCM can also be caused by gene mutations, suggesting that genetic factors were involved in the pathogenesis of DCM; therefore genetic testing is beneficial for the early diagnosis of DCM, which can facilitate the implementation of preventive measures by and within patient's families. Here, we investigated the underlying genetic mutations involved in the cause of patients with DCM. This prospective study included 240 patients with idiopathic DCM and 240 healthy volunteers. Subject clinical data were collected and polymerase chain reaction amplification was carried out on subject DNA for three candidate genes tropomyosin (TPM1), cardiac troponin T type-2 (TNNT2), and nuclear lamina protein A/C. Single nucleotide polymorphism (SNP) loci were detected in the TPM1 (rs1071646) and TNNT2 (rs3729547) genes, respectively. The genotype distributions and allele frequencies were found to satisfy Hardy-Weinberg equilibrium, which indicated that the group was representative. Statistically significant differences were found between the variant frequencies in the two SNP loci between the Kazakh patients with idiopathic DCM (IDCM) and healthy volunteers. A significant difference in the genotype distributions (P = 0.000) and allele frequencies (P = 0.000) of SNP rs1071646, and another significant difference in the genotype distributions (P = 0.000) and allele frequencies (P = 0.039) of SNP rs3729547 between Kazakhs with IDCM and Kazakh controls. These results suggest that the TPM1 (rs1071646) and TNNT2 (rs3729547) gene variants might represent risk factors for patients with DCM in the Kazakh population.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tropomiosina / Cardiomiopatia Dilatada / Troponina T Tipo de estudo: Observational_studies / Prognostic_studies / Screening_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Mol Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2015 Tipo de documento: Article País de publicação: Brasil

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tropomiosina / Cardiomiopatia Dilatada / Troponina T Tipo de estudo: Observational_studies / Prognostic_studies / Screening_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Mol Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2015 Tipo de documento: Article País de publicação: Brasil