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

Cell Mol Immunol. 2004 Aug;1(4):311-4.

Abstract

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.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asian People / genetics*
  • Autoimmune Diseases / genetics
  • Cardiomyopathy, Dilated / genetics*
  • Case-Control Studies
  • China
  • Ethnicity / genetics*
  • Female
  • Gene Frequency
  • Genes, MHC Class II*
  • Genotype
  • HLA-DQ Antigens / genetics*
  • HLA-DQ alpha-Chains
  • HLA-DQ beta-Chains
  • Humans
  • Male
  • Middle Aged

Substances

  • HLA-DQ Antigens
  • HLA-DQ alpha-Chains
  • HLA-DQ beta-Chains
  • HLA-DQA1 antigen
  • HLA-DQB1 antigen