Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 GeneticVariation disease BEFREE Classical CD was more frequent with a double versus single dose of the HLA-DQB1*02 allele (OR = 1.758, 95%CI: 1.148-2.692, I2 = 0.0%). 30763397 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE HLA-DQB1*02 allele in children with celiac disease: Potential usefulness for screening strategies. 31187602 2019
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
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE The highest HLA-DQB risk for CD development was found in patients carriers a DQ2.5/DQ8 genotype (1/10), followed by the patients carriers DQ2.5/DQ2.5 (1/12). 29793442 2018
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 Biomarker disease BEFREE These results suggest that clinically suspected individuals for CD and first-degree relatives of patients with CD to be screened for HLA-DQB*0201 and DQB*0302 alleles for possible early diagnosis and treatments. 24917237 2014
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 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 GeneticVariation disease BEFREE Higher frequencies for HLA-DQB1*02:01 (40.25 vs. 9.58%, P < 0.001) and DQB1*02:02 (20.34 vs. 5.42%, P < 0.001) were observed in patients with CD, whereas HLA-DQB1*03:01 (16.53 vs. 30.42%, P < 0.001), DQB1*05:01 (0.85 vs. 10%, P < 0.001), and DQB1*05:02 (5.51 vs. 17.92%, P < 0.001) were significantly lower, as compared with the controls. 23041663 2012
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 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 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 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 GeneticVariation disease LHGDN Type 1 ETL also appears to be linked pathogenetically to celiac disease, sharing genetic alterations and HLA-DQB1 genotype patterns with (refractory) celiac disease. 17484883 2007
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE The genetic predisposition at the HLA-DQB1 locus influences the severity of the mucosal damage in a dose-dependent manner, but not the clinical presentation, of celiac disease. 17190762 2007
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 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 LHGDN HLA DQA1*0501 and DQB1*02 in Cuban celiac patients. 16916661 2006
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 LHGDN Gene, gut and schizophrenia: the meeting point for the gene-environment interaction in developing schizophrenia. 15617864 2005
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