HLA-DPB1 glutamate 69: a genetic marker of beryllium disease.
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.
Richeldi
L
L
Postgraduate School of Cardiorespiratory Physiopathology, University of Roma, Italy.
Sorrentino
R
R
Saltini
C
C
D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D001607:Berylliosis / Q000235:genetics* / Q000276:immunology; D001608:Beryllium / Q000009:adverse effects*; D004198:Disease Susceptibility; D005260:Female; D005802:Genes, MHC Class II; D005838:Genotype; D005971:Glutamates; D018698:Glutamic Acid; D006682:HLA-DP Antigens / Q000737:chemistry / Q000235:genetics* / Q000276:immunology; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016273:Occupational Exposure; D010641:Phenotype; D012307:Risk Factors
D005971:Glutamates; D006682:HLA-DP Antigens; D018698:Glutamic Acid; D001608:Beryllium