RESUMEN
CONTEXT: Acute rheumatic fever (ARF)/rheumatic heart disease (RHD) is a major cause of morbidity and mortality in India, yet, few studies are available on susceptibility markers. OBJECTIVE: To associate human leukocyte antigen (HLA) class II alleles with north Indian RHD patients as genetic susceptibility markers. MATERIALS AND METHODS: HLA alleles were analysed using sequence specific primer-polymerase chain reaction and nucleotide sequencing, while HLA-B27 expression by flowcytometry. RESULTS: Few HLA-DQB1/DRB1 alleles were associated with RHD and HLA-DRB1*14 gene polymorphism revealed two single nucleotide polymorphisms (SNPs) in patients. Bioinformatic predictions showed influence of SNPs on protein function. HLA-B27 was positive in 42.85% ARF patients. CONCLUSION: The study showed association of different HLA class II alleles with RHD in North Indian population.