Background and aim of the study: Rheumatic heart disease (RHD) is often preceded by rheumatic fever (RF). The disease is a multisystem inflammatory condition that develops as a sequel to untreated throat infection by group A beta-hemolytic streptococci. Several studies have suggested that genetic susceptibility to RHD may be linked to human leukocyte antigen (HLA) class II alleles. The study aim was to investigate the association between RHD and the antigens HLA-A, -B, -C, -DR and -DQ profile in RHD patients in eastern Turkey.
Methods: A case-control study was conducted which included 85 unrelated patients with RHD, and 85 control subjects. The diagnosis was supported by echocardiography and histories of RHD of those patients who underwent valve replacement. The association of class I and class II HLA antigens was

examined in RHD and control subjects using a sequence-specific primer (SSP) method.
Results: The phenotypes HLA-B51, -Cw*4 and -DRB1*01 were encountered in significantly lower frequencies in patients with RHD compared to the control population (p <0.05, p <0.05, p <0.05, respectively). There was also a significant increase in antigen frequency of HLA-DQB1*08 in RHD patients compared to controls (p <0.005).
Conclusion: Among the studied population, the results suggested that susceptibility to RHD was HLA-related, with HLA-DQB1*08 most likely influencing the occurrence of the condition. HLA-B51, -Cw*4 and -DRB1*01 appeared to be more common in control subjects.

The Journal of Heart Valve Disease 2007;16:293-299