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 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 GeneticVariation disease BEFREE The aim of this study was to further investigate associations between HLA-DRB1 alleles and the risk for extra-pulmonary manifestations (EPMs), i.e. engagement of the skin, superficial lymph nodes, eyes, nervous system, kidneys, hypercalcemia, parotid and salivary glands, heart, liver, spleen and bone marrow in Scandinavian sarcoidosis patients. 24641503 2014
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
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 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 GeneticVariation disease BEFREE Löfgren's syndrome is a common sarcoidosis phenotype in the Dutch and is strongly associated with the DRB1*0301 allele. 20685690 2010
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 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 These results support the hypothesis that HLA-A, -B, and -DRB1 polymorphisms may play a role in susceptibility and manifestation of sarcoidosis. 21513758 2011
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 We have previously demonstrated that in our series HLADRB1* 03:01 and haplotype HLA-DRB1*04:01-DPB1*04:01 are associated with good prognosis sarcoidosis. 29229112 2017
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 GeneticVariation disease BEFREE Our studies implicated that the HLA-DRB1 allele is a major contributing genetic factor in the development of sarcoidosis in Japan. 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 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
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 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 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 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 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 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 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 Together, these studies reveal the presence of linked <i>in situ</i> recognition of vimentin by both T- and B-cells in HLA-DRB1*03<sup>+</sup> sarcoidosis patients, associated with a selective humoral immune response to the vimentin C-terminus. 30038611 2018
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 GeneticVariation disease BEFREE We performed abdominal ultrasonography to evaluate the prevalence and extent of splenomegaly and genotyped for HLA-DRB1 and DQB1 using allele or allele group specific primers in polymerase-chain-reaction on 138 Japanese sarcoidosis patients as case comparison study. 17875181 2007
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