Association of HLA-DQ with idiopathic dilated cardiomyopathy in a northern Chinese Han population.

Autoimmune mechanisms are likely involved in the pathogenesis of idiopathic dilated cardiomyopathy (IDC) and components of MHC may serve as markers for the propensity to develop immune-mediated myocardial damage. This study was conducted to investigate the possible association between HLA-DQA1, -DQB1 alleles and IDC in Han population from northern China by using PCR-based sequence-specific primer (PCR-SSP) technique for HLA genotyping. Among 68 unrelated IDC patients, 4 probands of IDC pedigrees and 100 healthy controls, we found that the alleles of HLA-DQA1*0501 and HLA-DQB1*0303 conferred susceptibility to IDC while HLA-DQA1*0201 and HLA-DQB1*0502, *0504 alleles were in negative association with IDC. The serine at position 57 (SER57) in the exon of HLA-DQB1*0502 and *0504 was confirmed in our experiment as a marker for resistance to IDC. The results suggest that HLA-DQ polymorphism may be involved in the pathogenesis of IDC.