Association Between the Interferon Gamma 874 T/A Polymorphism and the Severity of Valvular Damage in Patients with Rheumatic Heart Disease

Abstract

Interferon gamma (IFN-gamma) is a multifunctional cytokine that plays an important role in modulating almost all phases of the immune response and may be responsible for the increased valvular fibrosis and calcification in the pathogenesis of rheumatic heart disease (RHD). The aim of this study was to investigate the possible relationship between the IFN-gamma +874 T/A polymorphism and the severity of valvular damage in the Turkish population. The IFN-gamma genotypes were determined in 152 RHD patients and 151 healthy controls by ARMS-PCR. Differences in genotype distribution between patients with RHD and control were evaluated by the chi (2) test. All statistical analyses were performed with SPSS 15.0 Software program. Frequency of the AA genotype was found to be significantly lower and the TT genotype significantly higher in the RHD group compared to controls (p = 0.002 and p = 0.018, respectively). The TT genotype was found to be significantly higher (26.8% vs. 9.1%, p = 0.009) and the AA genotype significantly lower (29.1% vs. 8.2%, p = 0.001) in the severe valvular disease (SVD) group compared to mild valvular disease group. In the SVD group, 79 patients had mitral balloon valvotomy and/or mitral valve replacement and had significantly higher TT genotype compared to patients with medical follow-up (30.4% vs. 19%, p = 0.001). The data demonstrated that TT genotype is associated with both RHD and the severity of RHD.