Lack of association between transforming growth factor-beta1 gene polymorphisms and mitral valve prolapse in Taiwan Chinese.

BACKGROUND AND AIMS OF THE STUDY: 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.

METHODS: 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.

RESULTS: 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.

CONCLUSION: 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.