The role of a common TNNT2 polymorphism in cardiac hypertrophy
The role of a common TNNT2 polymorphism in cardiac hypertrophy
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DOI：
10.1007/s10038-003-0121-4
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发表时间：
2004-03-01
影响因子：
3.5
通讯作者：
Miyatake, K
中科院分区：
文献类型：
--
作者：
Komamura, K;Iwai, N;Miyatake, K
我们发现一个5碱基对插入/缺失多态性的内含子3的TNNT 2，负责肥厚型心肌病的基因之一。这五个碱基可能是内含子多嘧啶序列的一部分，可能会影响剪接。本研究的目的是检测该多态性与心肌肥厚的关系。研究人群包括151例显著向心性左心室肥厚受试者和987例体检健康受试者（对照人群）。在肥厚型心肌病人群中，缺失/缺失基因型倾向于与较大的左心室质量/高度比相关（p
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