Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 Biomarker disease BEFREE HLA-DRB1*04 seems to protect against overall sarcoidosis but appears to be a significant risk factor for ocular sarcoidosis as well as for other manifestations associated with HS. 21565911 2011
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE According to multivariate analysis (MVA), the presence of HLA DRB1*15 was indicated as an independent risk factor for sarcoidosis (OR:2.37; 95% CI: 1.31-4.30, p=0.004). 25078644 2014
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE Among sarcoidosis patients, the HLA A*23, A*80, B*08, B*41, DQB1*05 and DRB1*14 antigens tended to be more common than in the controls, whereas the B*44, B*45, B*51, B*58, DRB1*15 and DRB1*16 alleles were more frequently found in control subjects than in the sarcoidosis patients. 23911360 2013
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 BTNL2 rs206530 A allele frequencies were significantly higher in sarcoidosis with no linkage disequilibrium with HLA-DRB1 alleles, except in the subgroup of patients with Löfgren syndrome where the determinant allele was HLA-DRB1*03. 23017494 2012
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE BTNL2 haplotype 4, tagged by the rs2076530 G allele, also remained associated with non-Löfgren sarcoidosis after adjusting for HLA-DRB1 alleles (OR 0.37, P = 0.016). 17661910 2007
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 GeneticVariation disease BEFREE Different HLA-DRB1 allele distributions in distinct clinical subgroups of sarcoidosis patients. 20187937 2010
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 Biomarker disease BEFREE Epitopes of native vimentin are antigenic in the group of HLA-DRB1*0301 positive patients with sarcoidosis. 30009963 2018
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE ESAT-6 and katG presented by antigen-presenting cells expressing DRB1*1101-induced Th-1 responses from sarcoidosis T cells, thus providing a mechanistic insight for the association of HLA DRB1*1101 with sarcoidosis, and sarcoidosis T cell interaction with microbial antigens. 19536643 2010
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 Biomarker disease BEFREE Finally, multivariate analysis revealed that the CCR2 association was independent of HLA-DRB1*0301 in both Spanish (P = 0.02 vs. controls) and Swedish cohorts (P = 0.002 vs. non-Löfgren sarcoidosis, P = 0.001 vs. controls). 18513341 2008
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 SusceptibilityMutation disease ORPHANET Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles. 22991420 2012
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease GWASDB Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. 22952805 2012
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 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 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 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 Biomarker disease BEFREE Human leukocyte antigen (HLA)-DRB1*03 is over-represented in LS, and is associated with a good prognosis, whereas HLA-DRB1*15-positive patients have a more chronic course of sarcoidosis. 30585624 2019
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE In a retrospective case-control study, TNF-alpha G-308A, TNF-alpha G-238A, lymphotoxin-alpha (LTA) and HLA-DRB1*03 were genotyped in 625 sarcoidosis patients. 20070603 2010