DNA Repair Gene Polymorphism and the Risk of Mitral Chordae Tendineae Rupture.

Aysel Kalayci Yigin,Harun Kilic,Unal Erkorkmaz,Suleyman Kaleli,Ramazan Akdemir,Mehmet Akif Cakar,Keziban Karacan,Mehmet Bulent Vatan,Muhammed Necati Murat Aksoy

doi:10.1155/2015/825020

Abstract

Polymorphisms in Lys939Gln XPC gene may diminish DNA repair capacity, eventually increasing the risk of carcinogenesis. The aim of the present study was to evaluate the significance of polymorphism Lys939Gln in XPC gene in patients with mitral chordae tendinea rupture (MCTR). Twenty-one patients with MCTR and thirty-seven age and sex matched controls were enrolled in the study. Genotyping of XPC gene Lys939Gln polymorphism was carried out using polymerase chain reaction- (PCR-) restriction fragment length polymorphism (RFLP). The frequencies of the heterozygote genotype (Lys/Gln-AC) and homozygote genotype (Gln/Gln-CC) were significantly different in MCTR as compared to control group, respectively (52.4% versus 43.2%, p = 0.049; 38.15% versus 16.2%, p = 0.018). Homozygote variant (Gln/Gln) genotype was significantly associated with increased risk of MCTR (OR = 2.059; 95% CI: 1.097–3.863; p = 0.018). Heterozygote variant (Lys/Gln) genotype was also highly significantly associated with increased risk of MCTR (OR = 1.489; 95% CI: 1.041–2.129; p = 0.049). The variant allele C was found to be significantly associated with MCTR (OR = 1.481; 95% CI: 1.101–1.992; p = 0.011). This study has demonstrated the association of XPC gene Lys939Gln polymorphism with MCTR, which is significantly associated with increased risk of MCTR.

Highlights

Definite cause of chordae tendineae rupture remains confusing, primary rupture is thought to be more frequent cause than the other underlying situations such as mitral valve prolapse, subacute bacterial endocarditis, local myxomatous degeneration, rheumatic heart disease, systemic or generalized connective tissue abnormality, blunt chest trauma, hypertrophic cardiomyopathy, other heart and valvular abnormalities, ischemic heart disease in general, and myocardial infarction in particular [1].Primary or idiopathic mitral chordae tendineae rupture (MCTR) is a progressive condition that may eventually require mitral valve surgery, as the patients treated medically suffer a high (6.3%) mortality rate
Kimura et al revealed that downregulation of tissue inhibitor of metalloproteinase (TIMP) 2 and tenomodulin and upregulation of vascular endothelial growth factor- (VEG) A and matrix metalloproteinases (MMP) likely play a major role in the molecular mechanism underlying the pathophysiology of MCTR [5]
Demographic, echocardiographic, laboratory, and genotype/allele frequencies of the Xeroderma Pigmentosum Complementation Group C (XPC) Lys939Gln polymorphisms between MCTR patients and controls are summarized in Tables 1 and 2

Summary

Introduction

Primary or idiopathic mitral chordae tendineae rupture (MCTR) is a progressive condition that may eventually require mitral valve surgery, as the patients treated medically suffer a high (6.3%) mortality rate. Kimura et al revealed that downregulation of tissue inhibitor of metalloproteinase (TIMP) 2 and tenomodulin and upregulation of vascular endothelial growth factor- (VEG) A and matrix metalloproteinases (MMP) likely play a major role in the molecular mechanism underlying the pathophysiology of MCTR [5]. Lin et al showed that MMP 1 gene expression and MMP 1-1607-16/26 gene polymorphism were independently associated with MCTR [6]. These preliminary studies have demonstrated that genetic factors have an influence on individual susceptibility to MCTR

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