Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE Multiple epidemiologic studies demonstrate associations between chronic beryllium disease (CBD), beryllium sensitization (BeS), and HLA-DPB1 alleles with a glutamic acid residue at position 69 (E69). 22972925 2012
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 SusceptibilityMutation disease ORPHANET Chronic beryllium disease, HLA-DPB1, and the DP peptide binding groove. 22972925 2012
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE Beryllium sensitization (BeS) and chronic beryllium disease (CBD) are determined by at least one genetic factor, a glutamic acid at position 69 (E69) of the HLA-DPB1 gene, and by exposure to beryllium. 21471109 2011
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE Because inbred strains of mice have not provided good models of CBD to date, three strains of HLA-DPB1 transgenic mice in an FVB/N background were developed; each contains a single allele of HLA-DPB1 that confers a different magnitude of risk for chronic beryllium disease: HLA-DPB1*0401 (OR approximately 0.2), HLA-DPB1*0201 (OR approximately 3), and HLA-DPB1*1701 (OR approximately 46). 19589099 2009
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE Polymorphisms in the NAT2 and the HLA-DPB1(G)(lu69) genes provide classic examples of how genetic susceptibility markers have a clear role in identifying disease risk in bladder cancer and chronic beryllium disease, respectively. 18487431 2008
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 Biomarker disease BEFREE HLA-DPB1 with a glutamic acid at amino acid position 69 (Glu69) confers increased risk of beryllium sensitization and is not specific for chronic beryllium disease. 18317020 2008
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE BTNL2 allele associations with chronic beryllium disease in HLA-DPB1*Glu69-negative individuals. 17927685 2007
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE The purpose of the study was to evaluate the evidence for potential differential susceptibility that may be associated with the physical characteristics of HLA protein molecules for which different HLA-DPB1*E69 variants code; that is, do some HLA-DPB1*E69 variants convey higher risk of beryllium sensitization and chronic beryllium disease than others. 16054169 2005
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 Biomarker disease BEFREE These results indicate a prominent role for HLA-DP and LFA-1 in BAL CD4(+) T cell activation and further suggest that specific Abs to these molecules could serve as a possible therapy for chronic beryllium disease. 15778396 2005
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE Several case-control studies have found an association between chronic beryllium disease (CBD) and HLA-DPB1 gene variants. 15273960 2004
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE The scenarios involve glutathione-S-transferase theta 1 (GSTT1) and hematopoietic cancer in hospital workers, human leukocyte antigen coding for glutamic acid in the 69th position (HLA DPB1(E69)) and chronic beryllium disease in beryllium workers, and peripheral myelin protein 22 (PMP22) deletion and carpal tunnel syndrome in railroad track workers. 15018031 2004
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE The HLA-DPB1 locus also contributed to susceptibility for sarcoidosis and, in contrast to chronic beryllium disease, a non-E(69)-containing allele, HLA-DPB1*0101, conveyed most of the risk. 14508706 2003
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 Biomarker disease BEFREE Evaluation of HLA-DPB1 sequence motifs in current and former beryllium workers implicated a glutamic acid residue at position 69 (HLA-DPB1(Glu69)) in chronic beryllium disease. 12615603 2003
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE Beryllium presentation to CD4+ T cells underlies disease-susceptibility HLA-DP alleles in chronic beryllium disease. 11050177 2000
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE Chronic beryllium disease (CBD) is associated with the allelic substitution of a Glu69 in the HLA-DPB1 gene. 10415070 1999
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE Glutamic acid at position 69 in HLA-DPB1 has been reported to be strongly associated with chronic beryllium disease. 9655715 1998
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
0.400 GeneticVariation disease BEFREE A study of chronic beryllium disease (CBD), a granulomatous disorder which is pathologically similar to sarcoidosis, has identified an association between this disease and the presence of a glutamine residue at position 69 (Glu 69+) of the B1 chain of the HLA-DPB molecule. 8909942 1996