Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE Paternal transmission of DRB1 alleles encoding a +2 charge 3rd HVR was significantly reduced in SSc patients compared with maternal transmission (p = 0.0003, corrected for analysis of four charge categories p = 0.001). 28270189

2017

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE Secondary analyses of all DRB1 allele groups revealed an association with DRB1*10 (10.5% of patients with juvenile-onset SSc versus 1.5% of controls; OR 7.48, P = 0.0002). 27214100

2016

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE However, there was a significant association between DRB1*01:01, DRB1*10:01, DQB1*05:01, and DPB1*04:02 and the susceptibility to SSc with ACA. 27116456

2016

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE We also confirmed previous associations of HLA-DRB1*11:04 and -DRB1*01 to susceptibility to develop SSc. 25993664

2015

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE We further observed a consistent negative association of HLA-DRB1(∗)13 allele with SLE, Ps + PsA, RA, and SSc (18.3%, 19.3%, 16.3%, and 11.9%, resp., versus 29.8% in controls). 26605347

2015

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE Polymorphisms in exons 2-4 for HLA-A, -B, -C loci, exon 2 for HLA-DRB1 and exons 2,3 for HLA-DQB1 were analyzed for association with PSS at allele and haplotype levels. 26161794

2015

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE In addition, DRB1*11 and *07∶01 also showed significant association with SSc as a risk for and protection from SSc, respectively, and which is consistent with the studies of Spanish, US Caucasian and Hispanic populations. 25184637

2014

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE Among the HLA-DR*15 alleles, the AF of the DRB1*15:02 was increased significantly in all SSc patients (29.0 vs 12.6%, Pc = 0.0219) and SSc patients with anti-Scl70+ (32.4 vs 12.6%, Pc = 0.0196). 23404077

2013

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE Furthermore, FLEDR is always carried by the most abundantly expressed ß chain: ß1 in HLA DRB1*11 haplotypes and ß5 in HLA-DRB1*15 haplotypes.In French Caucasian patients with SSc, FLEDR is the main presenting motif influencing ATA production in dcSSc. 22615829

2012

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE Fifty (18.5%) AA patients had AFA.After Bonferroni correction, HLA-DRB1*08:04 was associated with AFA, compared to unaffected AA controls (OR 11.5, p < 0.0001) and AFA-negative SSc patients (OR 5.2, p = 0.0002). 21572159

2011

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE To determine human leucocyte antigen-class II (HLA-class II) (DRB1, DQB1, DQA1 and DPB1) alleles, haplotypes and shared epitopes associated with scleroderma (systemic sclerosis (SSc)) and its subphenotypes in a large multi-ethnic US cohort by a case-control association study. 19596691

2010

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE His HLA type included both the B27 allele conferring susceptibility to ankylosing spondylitis and the B35, DRB1 11, and DQB1 03 described as associated with systemic sclerosis. 19372061

2009

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE HLA-DRB1*11 was associated with genetic susceptibility to SSc, whereas HLA-DRB1*07 (HLA-DRB1*0701) showed a protective effect. 19884273

2009

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE Complete HLA-DRB1 typing was obtained for 58 SSc and 68 control families (proband/children). 19208687

2009

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE HLA-DRB1*11 and DQB1*03 associated with SSc. 17392350

2007

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE The frequency of the HLA-DRB1*03-DQA1*05-DQB1*02 haplotype was significantly increased in the JDM-SSc (P = 0.003) and anti-PM-Scl antibody (P = 0.002) positive groups. 18003662

2007

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE On the other hand, others are more disease specific (HLA-DRB1*11 for systemic sclerosis and HLA-DRB1 alleles encoding the "shared epitope" in RA) as well as non MHC genes, such as FcyRIIa and IIIa in SLE, the beta2 glycoprotein I gene in the aPL syndrome, and the TSHR gene in Graves' disease). 16890892

2006

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE The HLA-DRB1*15 allele was associated with the development of anti-topo I-positive SSc in Koreans. 16467040

2006

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE HLA-DRB1*01 and HLA-DRB1*11 were associated with susceptibility to scleroderma, whereas HLA-DRB1*07 was protective. 16078323

2005

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE In contrast, in limited SSc the strongest association was with DRB1*1101 (P = 0.008), with a less significant increase of DRB1*1104 (P = 0.04). 15572392

2005

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE Increased frequencies of DR2 in the overall SSc group (OR = 2.4), DRB1*0301 in the limited cutaneous SSc (lcSSc) subset (OR = 9.0), and DQB1*0301/4 in the diffuse cutaneous SSc (dcSSc) subset (OR = 9.0) were observed. 15104683

2004

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE A significant increase in the +49A was not observed in SSc with HLA-DRB1*1502 or ORB1*0802. 12508774

2003

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 Biomarker BEFREE HLA-DQB1*0301 was significantly associated with SSc per se in all 3 ethnic groups; HLA-DRB1*11 correlated with the anti-topoisomerase I antibody response, and HLA-DRB1*01, DRB1*04, and DQB1*0501 with ACA. 11303306

2001

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE Among anti-topo I negative patients, diffuse and limited subtypes of SSc were significantly associated with DRB1*0803 (47% vs 15% in controls; Pcorr < 0.05) and DRB1*1501 (50% vs 17% in controls; Pcorr < 0.01), respectively. 11469465

2001

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.100 GeneticVariation BEFREE HLA-DRB1*1502; DQB1*0601 has been reported to be the most frequent anti-topo I associated haplotype among Japanese SSc patients. 11776400

2001