Implication of Hsp70 Gene Polymorphisms in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
C. Sandeep Kumar1, M.L. Satynarayana1, Ananthapur Venkateshwari2, Calambur Narasimhan3, Pratibha Nallari1*
Affiliation
- 1Department of Genetics, University College of Science, Osmania University, Hyderabad, Telangana, India
- 2Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, Telangana, India
- 3Care Hospital, Hyderabad, Telangana, India
Corresponding Author
Pratibha Nallari, Professor, Department of Genetics, Osmania University, College of Science, Hyderabad-500007, India. Tel: 91-040- 27682335; Fax: 91-040-27098020; E-mail: prathinallari@gmail.com
Citation
Nallari, P., et al. Implication of HSP70 gene polymorphisms in Arrhythmogenic right ventricular cardiomyopathy/dysplasia. (2015) J Heart Cardiol 1(1): 14-18.
Copy rights
© 2015 Nallari, P. This is an Open access article distributed under the terms of Creative Commons Attribution 4.0 International License
Keywords
Abstract
Introduction: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by initial fibrofatty replacement of the right ventricle. Mutations in the Desmosomal and 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 the genotypic data generated.
Results: Our study revealed a statistically significant association of GC genotype (HSP70-1 +190G/C) [OR 2.93,95%CI 1.08-8.00, p = 0.035] and TC genotype (HSP70-hom +2437T/C) [OR 2.04, 95% CI 1.01-4.55, p = 0.045] with risk to develop ARVC/D. 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 results highlight a modifier role of HSP70 polymorphisms in ARVC/D etiopathogenesis, as the synergistic action of these polymorphisms may inhibit the HSP70 protein to perform its regular role, which in turn may trigger inflammation and apoptosis, hence the muscle tissue may be replaced by fibrofatty tissue.
