The role of a common TNNT2 polymorphism in cardiac hypertrophy

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• 作者：Kazuo Komamura ; Naoharu Iwai ; Koichi Kokame ; Yoshio Yasumura ; Jiyoong Kim ; Masakazu Yamagishi ; Takayuki Morisaki ; Akinori Kimura ; Hitonobu Tomoike and Masafumi Kitakaze ; et al.
• 关键词：Polymorphism ; Troponin T ; Genetics ; Hypertrophy ; Cardiomyopathy
• 刊名：Journal of Human Genetics
• 出版年：2004
• 出版时间：March 2004
• 年：2004
• 卷：49
• 期：3
• 页码：129-133
• 全文大小：1,675 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Molecular Medicine
  Cancer Research
  Cell Biology
  Immunology
  Neurosciences
  
• 出版者：Springer Japan
• ISSN：1435-232X

文摘

We found a five-basepair insertion/deletion polymorphism in intron 3 of TNNT2, one of the genes responsible for hypertrophic cardiomyopathy. These five bases may be part of an intronic polypyrimidine tract sequence that may affect splicing. The purpose of the study was to examine the association of the polymorphism with cardiac hypertrophy. The study population consisted of 151 subjects with prominent concentric left ventricular hypertrophy, and 987 healthy subjects recruited from medical checkups (control population). The deletion/deletion genotype tended to be associated with a larger left ventricular mass/height ratio in the HCM population (p<0.0001). Multiple regression analyses indicated that the left ventricular mass/height ratio was determined (p<0.0001, R=0.738) by the TNNT2genotype. Moreover, the frequency of the deletion allele was significantly higher in the hypertrophy population than in the control population (p<0.0001). In vitro expression study revealed the deletion allele significantly affected the mRNA expression pattern by skipping exon 4 during splicing. In conclusion, TNNT2 deletion allele could be associated with a predisposition to prominent left ventricular hypertrophy.