Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE These results suggest that the HLA-alleles responsible for the susceptibility to sarcoidosis are located at the HLA-DRB1 locus rather than the HLA-DRB3, -DQA1 and -DQB1 loci. 8085259 1994
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE Susceptibility to the development of sarcoidosis has been demonstrated to be associated with HLA-DR5, -DR6, and -DR8 encoded by the DRB1 gene. 7742275 1995
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE Our finding of a high frequency of DRB1*08 (which lacks the DRB3 gene encoding the DR52 antigen) in patients living in both eastern Japan and in Hokkaido, confirms that it is the HLA-DRB1 locus, rather than that of the HLA-DRB3, -DQA1, or -DQB1, which determines the susceptibility to sarcoidosis. 9130059 1996
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE The significantly increased frequency of the DR8 (DRB1*08) haplotype, which lacks the DRB3 gene encoding DR52 antigen, suggested that the DR5 (DRB1*11), DR6 (DRB1*14) and DR8 (DRB1*08) of the DRB1 alleles may determine the susceptibility to sarcoidosis among the Japanese. 8739505 1996
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE However, this difference might be explained by a secondary association with HLA-DRB1*08 in the HLA-DRB1 gene, which is thought to be the gene primarily responsible for susceptibility to sarcoidosis. 9458120 1997
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE These studies support the thesis that one of the major genetic factors controlling the development of sarcoidosis is located within the DRB1 locus in the HLA class II region. 9349405 1997
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE Sarcoidosis is a systemic granulomatous disease and the DRB1 gene of the DR subregion has been implicated for determining the genetic susceptibility to the disease. 9062964 1997
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE Among the patients with secondary EN, the patient subgroup with sarcoidosis exhibited a significantly increased frequency of HLA-DRB1* 13 compared with healthy controls. 11764214 2001
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE Human leukocyte antigen-DRB1 position 11 residues are a common protective marker for sarcoidosis. 11588003 2001
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE Conversely, a lack of DRB1*11 and/or DRB1*12 but not DRB3*0201/2 favored the clinical course of sarcoidosis. 11169267 2001
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE HLA-DRB3*0101 as well as DRB1*0301 positive sarcoidosis patients may have the capacity to present specific sarcoidosis associated antigens in such a way that AV2S3+ CD4+ T cells are stimulated preferentially, generating lung restricted AV2S3+ T cell expansions. 11923555 2002
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE Our results indicate that HLA-DQB1 and not HLA-DRB1 plays an important role in sarcoidosis susceptibility in African Americans. 12554629 2003
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease LHGDN HLA-DRB1*1101: a significant risk factor for sarcoidosis in blacks and whites. 14508706 2003
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease CTD_human HLA-DRB1*1101: a significant risk factor for sarcoidosis in blacks and whites. 14508706 2003
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE HLA-DRB1-F(47) was the amino acid residue most associated with sarcoidosis and independently associated with sarcoidosis in whites. 14508706 2003
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE Further, multivariate logistic regression analysis revealed that the presence of DRB1*11(odds ratio [OR] 9) and DRB1*14 (OR 7), and absence of DRB1*07 (OR 63 and DQB1*0201(OR 3) alleles, were independent predictors of sarcoidosis. 12600814 2003
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease LHGDN In the present study, short tandem repeats (STR) polymorphism within the first intron of IFN-gamma gene in connection with HLA-DRB1*03 specificities was analysed in 43 sarcoidosis patients, 14 of which presented with Löfgren's syndrome (LS). 15019280 2004
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE However, we also showed the presence of a combined association between DRB1*03 and IFN-gamma 3,3 in sarcoidosis (P = 0.017) and LS patients (P = 0.001). 15019280 2004
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE In addition, we found a highly significant correlation of HLA-DRB1*11 or -DRB1*15 alleles and/or the presence of M. tuberculosis DNA to a chronic disease course, whereas HLA-DRB1*03 or -DRB1*04 alleles combined with the absence of M. tuberculosis DNA were associated with an acute sarcoidosis (p = 0.009). 15881283 2005
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE The data suggest that the LTAlpha and HLA-DRB1 genes themselves or a gene located nearby contributes to the susceptibility to sarcoidosis and that TNF-308*A, LTA+252*G and HLA-DRB1*03 alleles are associated (directly or via linkage with unknown causative locus) with LS as a specific manifestation of the disease. 15713215 2005
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease LHGDN The overrepresentation of TNF-308*A, LTAlpha+252*G and HLA-DRB1*03 allele carriers was found in a subgroup of sarcoidosis patients presenting with Lofgren's syndrome (LS) by comparison with the subgroup of patients without LS (NLS; phenotype frequency LS vs NLS: 68.8 vs 37.1% for TNF-308*A, 93.8 vs 66.3% for LTA+252*G and 68.8 vs 21.3% for DRB1*03). 15713215 2005
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE The association of the HSP(+2437)-C allele with sarcoidosis and LS appeared to be independent of the presence of DRB1*03, although this HLA specificity was associated with LS manifestation. 16611259 2006
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE DQB1*02, DQA1*0201/*0501 (Ls) and DRB1*15/*13 (Stage II) were more frequently present in SA than in TB, but after correction, only DRB1*15, DQB1*02, DQA1*0501 were significantly different. 18038917 2006
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE Recent studies in sarcoidosis have identified association of a single nucleotide polymorphism (SNP) rs2076530 within BTNL2, a potential T-cell inhibitor, independent of the known DRB1 association. 16984233 2006
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE Initially, we studied the association of sarcoidosis with DQB1, and in the present study, we evaluated all amino acid variants of the HLA-DPB1, -DQB1, -DRB1, -DRB3, -DRB4 and -DRB5 genes to identify possible polymorphisms associated with the disease. 17559577 2007