HLA-linked susceptibility and resistance genes in Crohn's disease

Gastroenterology. 1995 Nov;109(5):1462-7. doi: 10.1016/0016-5085(95)90631-2.


Background & aims: Previous studies have shown a positive association of HLA-DR4-DQ4 with Crohn's disease in the Japanese population, but the association between Crohn's disease and HLA genes has yet to be fully elucidated. The aim of this study was to determine the Crohn's disease/HLA association using a DNA typing method.

Methods: A total of 90 unrelated patients with Crohn's disease and 336 healthy controls were typed for HLA class II genes including DP using DNA typing with the polymerase chain reaction-sequence-specific oligonucleotide probes method.

Results: Allelic analysis showed that DRB1*0405, DRB1*0410, DQA1*03, DQB1*0401, and DQB1*0402 are positively associated and DRB1*1501, DRB1*1302, and DQB1*0602 negatively associated with Crohn's disease. DP genes showed no significant association with Crohn's disease. Haplotype analysis showed positive associations with DRB1*0405-DQA1*03-DQB1*0401, DRB1*0410-DQA1*03-DQB1* 0402, and DRB1*0802-DQA1*03-BQB1-0402 haplotypes and negative associations with DRB1*1501-DQA1*0102-DQB1*0602 and DRB1*1302-DQA1*0102-DQB1*0604 haplotypes.

Conclusions: In Crohn's disease in the Japanese population, the HLA-linked disease susceptibility gene is primarily associated with DQB1*04, in which leucine at the 56th position is a unique amino acid, and the disease resistance allele is suggested to be DQA1*0102.

MeSH terms

  • Base Sequence
  • Crohn Disease / genetics*
  • Genes, MHC Class II*
  • Genetic Predisposition to Disease*
  • HLA-DP Antigens / genetics
  • HLA-DQ Antigens / genetics
  • HLA-DR Antigens / genetics
  • Humans
  • Immunity, Innate / genetics*
  • Molecular Sequence Data
  • Oligonucleotide Probes


  • HLA-DP Antigens
  • HLA-DQ Antigens
  • HLA-DR Antigens
  • Oligonucleotide Probes