HLA-DPB1 glutamate 69: a genetic marker of beryllium disease

Science. 1993 Oct 8;262(5131):242-4. doi: 10.1126/science.8105536.

Abstract

Chronic beryllium disease (CBD) is a lung disorder related to beryllium exposure and is characterized by the accumulation in the lung of beryllium-specific CD4+ major histocompatibility complex (MHC) class II-restricted T lymphocytes. Evaluation of MHC class II genes in 33 CBD cases and 44 controls has shown a negative association with HLA-DPB1*0401 (P < 0.001) and a positive association with HLA-DPB1*0201 (P < 0.05) alleles, which differ at residues 36, 55 to 56, and 69 of the beta 1 chain. Among CBD cases, 97 percent expressed the HLA-DPB1*0201-associated glutamic acid (unaffected population, 30 percent; P < 0.001) at residue 69, a position involved in susceptibility to autoimmune disorders. This suggests that HLA-DP has a role in conferring susceptibility and that residue 69 of HLA-DPB1 could be used in risk assessment for CBD.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Berylliosis / genetics*
  • Berylliosis / immunology
  • Beryllium / adverse effects*
  • Disease Susceptibility
  • Female
  • Genes, MHC Class II
  • Genotype
  • Glutamates
  • Glutamic Acid
  • HLA-DP Antigens / chemistry
  • HLA-DP Antigens / genetics*
  • HLA-DP Antigens / immunology
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Occupational Exposure*
  • Phenotype
  • Risk Factors

Substances

  • Glutamates
  • HLA-DP Antigens
  • Glutamic Acid
  • Beryllium