A Study on the Association of TGF ?1 (-509) and TNF- ? (-308) Gene Polymorphisms with susceptibility to Rheumatic Heart Disease in South Indian Patients

P.P Reddy; Prashanth.Chiliveri; Vanitha.Baluka; Rupalakshmi Harshavardhan; Shivakumar Yerra

Volume : VIII, Issue : XII, December - 2018

A Study on the Association of TGF ?1 (-509) and TNF- ? (-308) Gene Polymorphisms with susceptibility to Rheumatic Heart Disease in South Indian Patients

P. P Reddy, Prashanth. Chiliveri, Vanitha. Baluka, Rupalakshmi Harshavardhan, Shivakumar Yerra

Abstract :

Back ground: Rheumatic heart disease (RHD) is one of the major health problems world over and the morbidity and mortality due to this disease is alarming. Cytokines are important mediators of inflammatory and immune responses to RF and RHD.

Objective: The aim of the study is to investigate the association of TGFβ1 (–509) and TNFα (–308) gene polymorphisms with susceptibility to RHD in Telangana population and their potential usefulness as biomarkers to identify the individuals with risk for RHD.

Methods: The study was carried out on 56 RHD and 45 ethnically matched healthy subjects for comparison (controls). Demographic data was collected and 2D echocardiography was carried out for all for confirmation of the disease. 5mL blood sample was drawn from each subject, genomic DNA was isolated from each and subjected to PCR–RFLP to identify the polymorphisms of cytokine genes. The results were analyzed using appropriate statistical tests.

Results: Our results showed that GG genotype of TNFα (–308) (P< 0.05, OR 3.1, CI 1.17–8.4) was significantly associated with increased risk of RHD and G allele was found to be highly significant (P=0.0004, OR 2.81, CI 1.57 to 4.97). AG genotype showed 1.8 folds risk with RHD (P>0.05, 1.8, CI 0.65–5.1) and AG+GG combination showed 1.3 fold risk for RHD (P> 0.05 OR 1.3 CI 0.6–2.8). However, none of the genotypes showed an increase in the RHD patients compared to control subjects thus indicating that TGF–β– 1 gene was not associated with susceptibility for RHD.

Conclusion: Our findings suggest that TNFα (–308) gene polymorphism plays an important role in predisposition to RHD in Telangana population. However, our results showed that the TGF β– 1 (–509) was not associated with increased risk for RHD in this population.