Lack of Association Between Perlecan Gene Intron 6 BamHI Polymorphism and Risk of Mitral Valve Prolapse in Taiwan Chinese

Abstract

SUMMARYAbnormalities of proteoglycan, collagen, and elastic fibers were found in floppy mitral valves. Perlecan is one of the three major classes of heparan sulfate proteoglycans within the cardiovascular system. The role of perlecan genetic variant in mitral valve prolapse (MVP) has not been studied. We therefore performed a case-controlled study investigating the possible relation between the perlecan gene intron 6 BamHI polymorphism and MVP among the Chinese population in Taiwan.We studied 100 patients with MVP diagnosed by echocardiography and 100 age-and sex-matched normal control subjects. The perlecan gene intron 6 BamHI polymorphism was identified by polymerase chain reaction-based restriction analysis.There were no significant differences in either the genotype distribution or allelic frequencies between MVP cases and controls for perlecan gene intron 6 BamHI polymorphism (P = 0.20 and 0.76, respectively). Further categorization of the MVP patients into mild and severe subgroups also revealed no statistical difference from controls for perlecan gene intron 6 BamHI polymorphism.It is concluded that perlecan gene intron 6 BamHI polymorphism is not a suitable genetic marker of MVP in Taiwan Chinese (Jpn Heart J 2004; 45: 109-118)

Association between urokinase-plasminogen activator gene T4065C polymorphism and risk of mitral valve prolapse

“…Transforming growth factor-h1 (TGF-h1) was proposed to be involved in fibrotic process [33]. However, we did not find an association between TGF-b1 polymorphisms and MVP in our population [34]. Histological and ultrastructural analyses of FMV show alterations of collagen, elastic fibers and accumulation of proteoglycans.…”

Association between COL3A1 collagen gene exon 31 polymorphism and risk of floppy mitral valve/mitral valve prolapse

“…TGF-h1 was proposed to be involved in fibrotic process [35]. However, we did not find an association between TGF-b1 polymorphisms and risk of FMV/MVP in our population [36]. The possible contribution of collagenolytic activity (cathepsin B or metalloproteinases) in these valves needs to be evaluated.…”

Genetic Basis of Familial Valvular Heart Disease

“…It is interesting that perturbations in autonomic, neuroendocrine, and renin-angiotensinaldosterone system regulation have been reported among symptomatic patients with MVP. 31 A number of studies have subsequently demonstrated genetic association between MVP syndrome and the components of the renin-angiotensinaldosterone system, namely an angiotensin I-converting enzyme insertion/deletion polymorphism in intron 16, 50 the TT genotype of the angiotensinogen Met235Thr polymorphism, 51 and the C allele of the angiotensin II type 1 receptor A1166C polymorphism, 52 although these studies are limited by the relatively small cohort of patients with MVP syndrome. Therefore, although abnormal autonomic function might be responsible for symptoms in some patients with MVP, it remains unclear whether their MVP is directly related or incidental.…”