Journal of Heart and Cardiology
Implication of Hsp70 Gene Polymorphisms in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
Pratibha Nallari, Professor, Department of Genetics, Osmania University, College of Science, Hyderabad-500007, India. Tel: 91-040- 27682335; Fax: 91-040-27098020; E-mail: firstname.lastname@example.org
Nallari, P., et al. Implication of HSP70 gene polymorphisms in Arrhythmogenic right ventricular cardiomyopathy/dysplasia. (2015) J Heart Cardiol 1(1): 14-18.
© 2015 Nallari, P. This is an Open access article distributed under the terms of Creative Commons Attribution 4.0 International License
KeywordsArrhythmogenic right ventricular cardiomyopathy; Desmosomal genes; Modifier genes; HSP70 gene polymorphisms; Inflammatory responses; Apoptosis
Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC/D) is characterized by initial fibrofatty replacement of the right ventricular. Mutations in the Desmosomal, non desmosomal apart from modifier genes are known to be involved in the pathogenesis of the ARVC/D. One such modifier gene identified is HSP70 which plays an important role in cardio-protection. The present study investigates the role of Hsp70 polymorphisms in ARVC/D disease severity.
Methods: Analysis of 100 control samples and 33 ARVC/D patients for 3 polymorphic loci was carried out by PCR - RFLP. Statistical analysis was carried out by SNPSTAT and haploview to analyze and visualize LD.
Results: Our study revealed a statistically significant association of HSP 70-1 190 G/C [OR-3.01 (1.11-8.21)] and HSP 70-hom 2437T/C [OR-3.08 (1.06-8.90)] genotypes with ARVC/D group. The haplotype frequency of CGT was also found to be higher in patients compared to controls, strengthening the synergistic effect of HSP70 family in ARVC/D.
Conclusions: The present investigation revealed the importance of HSP70 polymorphisms in the pathogenesis of the ARVC/D. The inability HSP 70-1 polymorphism to perform its regular role may lead inflammation and apoptosis; whereas HSP 70-hom polymorphism confers a protective role by inhibiting the activation of NF-κB.