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Background Rheumatic heart disease (RHD) is an inflammatory, autoimmune disease, occurring as a consequence of group A streptococcal infection complicated by rheumatic fever (RF). Cytokines are important mediators of inflammatory and immune responses. JAK-STATs have been demonstrated to be critical elements in signaling by certain families of cytokines. GWAS has identified PTPN22 SNPs as non-HLA genetic variants to be associated with susceptibility to autoimmune diseases. Based on these, we looked for association of genetic variants of STAT 3, STAT 5B and GWAs identified PTPN22 with RHD in North Indian population.

Association of Genetic Polymorphisms in STAT 3, STAT 5b and GWAS Identified PTPN22 Gene with Rheumatic Heart Disease