Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE To analyze whether MS-associated human leukocyte antigen (HLA) alleles, apart from DRB1*15:01 and absence of A*02:01, interact with smoking in MS development, and to explore whether the established HLA-smoking interaction is affected by the DQA1*01:01 allele, which confers a protective effect only in the presence of DRB1*15:01. 31573825 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE The HLA-DR15 extended haplotype HLA-DRB1*15:01-DQA1*01:02-DQB1*06:02 comprises the strongest genetic risk factor for multiple sclerosis (MS). 30836273 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 Biomarker disease BEFREE Analyses of the HLA-DRB1*04 cohort in the absence of HLA-DRB1*15:01 haplotypes revealed that the HLA-DQB1*03:01:01:01~HLA-DQA1*03:03:01:01~HLA-DRB1*04:01:01:01SG~HLA-DRB4*01:03:01:01 haplotype was protective (OR = 0.64, p = 0.028), whereas the HLA-DQB1*03:02:01~HLA-DQA1*03:01:01~HLA-DRB1*04:01:01:01SG~HLA-DRB4*01:03:01:01 haplotype was associated with MS susceptibility (OR = 1.66, p = 4.9E-03). 29683085 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease GWASCAT Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation. 27386562 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE The objective of this study was to investigate the association between the HLA alleles at the DQA1, DQB1 and DRB1 loci, the CIITA genetic polymorphisms -168A/G and +1614G/C, and susceptibility to multiple sclerosis (MS) in a sample from Rio de Janeiro State, Brazil. 25992516 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE This study, which shows for the first time a functional HLA-DQA1/DRB1 mixed isotype heterodimer and its potential association with disease susceptibility, provides a rationale for a potential effect on MS risk from DQA1*01:02 through functional DQA1*01:02;DRB1*15:01 antigen presentation. 25911099 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease GWASDB Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. 20453840 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease GWASCAT Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. 20453840 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE Additionally, three haplotypes associated with a lower risk for MS were identified, exhibiting DRB1*0101-DQA1*0101-DQB1*0501 the strongest negative association with MS [12% in controls vs. 3.8% in MS, Pc = 0.00047, OR = 0.290 (95% CI = 0.160–0.528)], and suggesting, therefore, a putative protective role for this haplotype in the population under study. 19585166 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 Biomarker disease BEFREE HLA-DQA1*0102, shows no primary MS association. 19380721 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE The results show that, HLA DR B1*1501 was significantly more frequent among MS patients (46% vs. 20%, PV = 0.0006) but DQA1*0102 haplotype was negatively associated with MS (30% vs. 50%, PV = 0.0049) and no significant association was found with DQB1*0602 and MS patients in comparison with control group (24% and 30%, PV = 0.43). 18726686 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE The frequencies of HLA-DQA1, DQB1, and HLA-DRB1 DR2 alleles in the NMO group were intermediate between the healthy control group and the MS group. 19299434 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease GWASDB Risk alleles for multiple sclerosis identified by a genomewide study. 17660530 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE In Caucasian populations of Northern European descent, the DR15 haplotype (DRB1*1501-DQA1*0102-DQB1*0602) has been hypothesized to be the primary HLA genetic susceptibility factor for MS. 17329717 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE The development of MS is influenced by environmental factors, particularly the Epstein-Barr virus (EBV), and genetic factors, which include specific HLA types, particularly DRB1*1501-DQA1*0102-DQB1*0602, and a predisposition to autoimmunity in general. 17547851 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE The present study focused on human leukocyte antigen (HLA) DQB1, DQA1 and DRB1 allelic variation according to ethnicity and analyzed whether susceptibility to multiple sclerosis (MS) depends on population characteristics. 17489940 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 Biomarker disease LHGDN Ethnicity-dependent association of HLA DRB1-DQA1-DQB1 alleles in Brazilian multiple sclerosis patients. 17489940 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease LHGDN In Caucasian populations of Northern European descent, the DR15 haplotype (DRB1*1501-DQA1*0102-DQB1*0602) has been hypothesized to be the primary HLA genetic susceptibility factor for MS. 17329717 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE Human leukocyte antigen (HLA)-DRB1, DQA1, DQB1 allele typing was performed in Mexicans Mestizos with multiple sclerosis (MS) to define the HLA class II alleles associated with the disease in this population. 16218914 2005
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE The DR2 haplotype (DRB1*1501, DQA1*0102, DQB1*0602) was associated with MS (43.6 % vs. 20%, p=0.002). 15083289 2004
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 Biomarker disease BEFREE Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) with supposedly autoimmune features known to be associated with a specific HLA DR-DQ haplotype (DR15, DQ6, or HLDRB1*1501,DRB5*0101,DQA1*0102,DQB1*0602). 14651518 2004
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE The majority of HLA population studies in MS have focused on Caucasians of Northern European descent, where the predisposition to disease has been consistently associated with the class II DRB1*1501-DQA1*0102-DQB1*0602 haplotype. 12083953 2002
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 Biomarker disease BEFREE Individuals with co-existing MS plus T1DM displayed the expected T1DM associated HLA-pattern (75.8% carried DRB1*04, 69.7% carried DQB1*0302, 42% were DR4, DR3 heterozygous), but failed to display the expected MS associated HLA-pattern (0% carried DQB1*0602, 3.1% carried DQA1*0102). 12149602 2002
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 GeneticVariation disease BEFREE Our results suggested that the effect of the DRB1*1501,DQA1*0102,DQB1*0602 haplotype on the susceptibility to MS is additive, perhaps reflecting that development of the disease is facilitated by a high density surface expression of the antigen presenting molecules encoded by this haplotype. 11424637 2001
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.200 Biomarker disease BEFREE In this article, we investigated the distribution of polymorphic stretches of the DRB1, DQA1, and DQB1 chains known to be relevant for antigen binding, in 66 unrelated patients with relapsing remitting MS and 210 unrelated controls. 11082515 2000