Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE The aim of this study was to investigate a possible correlation between the HLA-DQA1 and HLA-DQB1 genetic markers and clinical features of celiac disease. 12050583 2002
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease CTD_human
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease LHGDN Moreover, individuals with at least 1 HLA-DQB1*02 allele tend to have a more expressed clinical and histological form of celiac disease. 18728523 2008
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE We have recently reported that the susceptibility to develop celiac disease (CD) seems to be primarily associated to a particular combination of an HLA-DQA1 (DQA1*0501) and an HLA-DQB1 (DQB1*0201) allele: i.e., a particular DQ alpha/beta heterodimer. 1980918 1990
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE The results show that HLA-DRB1*03, HLA-DRB1*07, and HLA-DQB1*02 alleles conferred susceptibility to CD in Brazilian patients. 11045836 2000
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE We studied nine consecutive DQ2-negative celiacs [from a group of 186 consecutive celiac disease (CD) patients] for the presence of the HLA-DQB1, DRB1, and DRBx alleles. 11061289 2000
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE In the present study we analysed this population to evaluate the degree of association with CD of the haplotypes and genotypes at the main HLA-DQB1 and DQA1 disease loci. 11929591 2001
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE As expected, all CD patients had at least one of the CD-associated alleles, and the highest CD risk was indicated by the presence of the HLA-DQ2.5 heterodimer (HLA-DQA1*05-DQB1*02) with HLA-DQB1*02 in homozygosity. 25413104 2014
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Genetic predisposition to celiac disease (CD) is determined primarily by the human leukocyte antigen (HLA) genes (CELIAC1 region; 6p21), although many loci are involved in disease susceptibility. 17767555 2007
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing. 23050549 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Genetic predisposition to coeliac disease (CD) is determined primarily by alleles at the HLA-DQB locus, and evidence exists implicating other major histocompatibility complex-linked genes (6p21) and the CTLA4 locus on chromosome 2q33. 15713213 2005
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE However, multivariate analysis demonstrated that patients with potential CD have a higher frequency of both HLA-DQB1*0302 and HLA-DQB1*0603 alleles and a reduced frequency of DQB1*02 homozygosity compared with patients with uncomplicated and complicated CD. 21694611 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease HPO
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Our study shows a significant gene dose effect in terms of tTGA level at diagnosis, but no significant association between HLA-DQB1*02 allele dose and the clinical outcomes in CD. 30779476 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Moreover, individuals with at least 1 HLA-DQB1*02 allele tend to have a more expressed clinical and histological form of celiac disease. 18728523 2008
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE HLA-DQA1 and HLA-DQB1 Alleles, Conferring Susceptibility to Celiac Disease and Type 1 Diabetes, are More Expressed Than Non-Predisposing Alleles and are Coordinately Regulated. 31331105 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease LHGDN HLA-DQ2 and -DQ8 signatures of gluten T cell epitopes in celiac disease. 16878175 2006
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease LHGDN Allele and haplotype frequencies for HLA class II (DQA1 and DQB1) loci in patients with celiac disease from Spain. 15120190 2004
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE To determine the contribution of HLA-DQA1* and HLA-DQB1* genes to the risk of coeliac disease (CD) in a cohort of children with type 1 diabetes mellitus (T1DM) from northern Italy. 15174785 2004
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Polymorphism within the HLA-DQB1*02 promoter associated with susceptibility to coeliac disease. 9587738 1998
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE In the non-CD family history group, an association between delayed disease onset and HLA-DQ8 carriage was observed (p < 0.001), besides an influence of HLA-DQB1*02 gene dosage on clinical presentation and severity of histological damage (after adjusting for age and sex, p = 0.05 and p = 0.02, respectively) and a trend towards presence of specific antibodies (p = 0.09). 31196071 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE The proportion of clinically undetected celiac disease may be particularly high among 3-year-old children with HLA-DQB1*02 and DQB1*0302 in Sweden, where these 2 HLA-risk alleles frequently occur. 19915493 2010
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE However, patients with type 1 diabetes who had the HLA-DQB 1*02 allele and, therefore, a higher risk for celiac disease (CD) absorbed significantly more mannitol (mean + 95% CI): 17.7% (15.2-20.2) than did those negative for this allele: 12.3% (8.2-16.4), p = 0.04. 12515291 2002
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A. 16567828 2006
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Indeed, no differences have been found in CD risk between DQ2/β2 and DQ2/DQ2, as well as between DQ8/β2 and DQ2/DQ8, and between β2/DQX and DQ2/X.ConclusionThe HLA-DQB1*02:01 allele is present in more than 90% CD children. 29244800 2018