Polymorphism within the HLA-DQB1*02 promoter associated with susceptibility to coeliac disease

Eur J Immunogenet. 1998 Feb;25(1):1-3. doi: 10.1046/j.1365-2370.1998.00083.x.

Abstract

Susceptibility to coeliac disease is associated with a particular HLA-DQ alpha beta heterodimer encoded by the DQA1*0501 and DQB1*02 genes. A single base polymorphism in the DQB1*02 promoter region in DR7, DQA1*0201, DQB1*02 haplotypes was observed, associated with an increased susceptibility to the disease. This finding suggests a novel mechanism of susceptibility to immune-mediated diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Celiac Disease / genetics*
  • Cell Line
  • DNA / analysis
  • Gene Expression Regulation
  • Genetic Predisposition to Disease
  • HLA-DQ Antigens / genetics*
  • HLA-DQ alpha-Chains
  • HLA-DQ beta-Chains
  • HLA-DR7 Antigen / genetics
  • Haplotypes
  • Humans
  • Leukocytes
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic*
  • Transcription, Genetic

Substances

  • HLA-DQ Antigens
  • HLA-DQ alpha-Chains
  • HLA-DQ beta-Chains
  • HLA-DQA1 antigen
  • HLA-DQB1 antigen
  • HLA-DR7 Antigen
  • DNA

Associated data

  • GENBANK/U49059