Background: Abnormalities of collagen and elastic fibers were found in floppy mitral valves (FMV). Urokinase-plasminogen activator (PLAU) was suggested to be involved in the pathogenesis of elastin and collagen degradation in arterial an eurysm. The role of PLAU genetic variant in mitral valve prolapse (MVP) has not been studied. We, therefore, performed a case controlled study investigating the possible relation between the PLAU gene polymorphisms and risk of MVP in Taiwan Chinese. Methods: We studied 100 patients with MVP diagnosed by echocardiograph y and 106 age-and sex-matched normal control subjects. The T4065C and T3995C p olymorphisms of the PLAU gene were identified by polymerase chain reaction (PCR) -based restriction analysis. Results: There was a significant difference in eit her the genotype distribution or allelic frequencies between MVP cases and contr ols for PLAU gene T4065C polymorphism (P=0.0001 and 0.0002, respectively). An od ds ratio for risk of MVP associated with PLAU T4065C TC genotype was 6.03 (95%c onfidence interval 2.11-14.83). An odds ratio for risk of MVP associated with P LAU T4065C T allele was 4.99 (95%confidence interval 1.93-12.91). There was no significant difference in either the genotype distribution or allelic frequenci es between MVP cases and controls for PLAU T3995C polymorphism. Further categori zation of the MVP patients into mild and severe subgroups revealed no statistica l difference between these two subgroups for PLAU T4065C and T3995C polymorphism s. Conclusions: This study shows that patients with MVP have a higher frequency of PLAU T4065C TC genotype and T allele that supports a role of the PLAU T4065C polymorphism in determining the risk of MVP among the Chinese population in Taiw an.
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