Chou Hsiang-Tai, Shi Yi-Ru, Hsu Yuan, Tsai Fuu-Jen
Department of Medicine, China Medical College Hospital, Taichung, Taiwan.
J Heart Valve Dis. 2002 Jul;11(4):478-84.
A role of collagen abnormality in the pathogenesis of mitral valve prolapse (MVP) has been addressed. It is considered that transforming growth factor-beta1 (TGF-beta1) may be responsible for the increased deposition of extracellular matrix in hypertensive blood vessels, and increased myocardial collagen expression and myocardial fibrosis in human aortic valve disease. However, the role of a TGF-beta1 genetic variant in MVP has not been studied. Hence, a case-controlled study was carried out to investigate the possible relationship between the TGF-beta1 gene C-509T and T869C polymorphisms and MVP among the Chinese population in Taiwan.
A group of 100 patients with MVP diagnosed by echocardiography, and 100 age- and sex-matched normal control subjects were studied. TGF-beta1 gene polymorphisms C-509T and T869C were identified by polymerase chain reaction-based restriction analysis.
There was no significant difference in the distribution of TGF-beta1 C-509T genotypes (p = 0.76) and allelic frequencies (p = 0.69) between MVP cases and controls; neither was any significant difference seen in the distribution of TGF-beta1 T869C genotypes (p = 0.95) and allelic frequencies (p = 0.84) between MVP cases and controls. Further categorization of MVP patients into mild and severe subgroups also revealed no statistical difference in C-509T and T869C polymorphisms of the TGF-beta1 gene compared with controls.
These findings suggest that the C-509T and T869C polymorphisms of the TGF-beta1 gene are not suitable genetic markers of MVP in Taiwan Chinese.
已探讨胶原异常在二尖瓣脱垂（MVP）发病机制中的作用。据认为，转化生长因子β1（TGF-β1）可能是高血压血管中细胞外基质沉积增加、人类主动脉瓣疾病中心肌胶原表达增加和心肌纤维化的原因。然而，尚未研究TGF-β1基因变异在MVP中的作用。因此，进行了一项病例对照研究，以调查台湾中国人群中TGF-β1基因C-509T和T869C多态性与MVP之间的可能关系。
研究了一组经超声心动图诊断为MVP的100例患者，以及100例年龄和性别匹配的正常对照受试者。通过基于聚合酶链反应的限制性分析鉴定TGF-β1基因多态性C-509T和T869C。
MVP病例与对照组之间TGF-β1 C-509T基因型分布（p = 0.76）和等位基因频率（p = 0.69）无显著差异；MVP病例与对照组之间TGF-β1 T869C基因型分布（p = 0.95）和等位基因频率（p = 0.84）也无显著差异。将MVP患者进一步分为轻度和重度亚组，与对照组相比，TGF-β1基因的C-509T和T869C多态性也无统计学差异。
这些发现表明，TGF-β1基因的C-509T和T869C多态性不是台湾中国人MVP的合适遗传标记。
