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 HLA DQA1*05 and DQB1*02 alleles encoding the DQ2.5 molecule and HLA DQA1*03 and DQB1*03 alleles encoding DQ8 molecules are strongly associated with celiac disease (CD) and type 1 diabetes (T1D), two common autoimmune diseases (AD). 31331105 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE Because of rarely reported cases of CD/rhabdomyolysis, anti-tissue transglutaminase (tTG) antibodies were measured and found positive (IgA 34 U/mL, unv <9).HLA typing was DQA1 05:02, DQB1 03:02. 28606713 2018
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE We have developed and validated CD-loop-mediated isothermal amplification (CD-LAMP), a LAMP assay, which enables rapid identification of the signature CD risk genotypes, HLA-DQ2.5, HLA-DQ8, HLA-DQ2.2, and HLA-DQA1*05. 29458095 2018
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE The data also revealed 2 distinct celiac disease risk DR3-DQA1*05:01-DQB*02:01 haplotypes distinguished by either the DRB3*01:01:02 or DRB3*02:02:01 alleles, indicating that different DRB1*03:01-DQB1*02:01 haplotypes confer different risk for celiac disease. 28585303 2017
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE The DRB1 *03:01- DQB1 *02:01- DQA1 *05:01/ DRB1 *04- DQB1 *03:02- DQA1 *03 haplotype combination, encoding DQ2.5 and DQ8 molecules, was equally frequent among patients with both T1D and CeD (52.6%) and T1D patients (46.8%) but significantly lower in CeD patients (9.5%). 28247576 2017
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE One patient showed a positivity only for HLA-DQ2.2 (encoded by DQA1*02 & B1*02).Our study showed that the genetic risk for CD was present in more than one-third of the cases without a confirmed diagnosis of CD. 28514313 2017
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Celiac disease (CD) is associated with tissue transglutaminase autoantibodies (tTGAs) in individuals carrying the human leukocyte antigen (HLA) risk haplotypes DQA1*05:01-DQB1*02:01 (DQ2) and/or DQA1*03:01-DQB1*03:02 (DQ8). 26301618 2016
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 AlteredExpression disease BEFREE Here, we demonstrated that HLA DQA1*05 and DQB1*02 gene expression is much higher than expression of non-CD-associated genes. 27083396 2016
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE In patients with LADA similarly to type 1 genotype DQA1*0301 seems to CONFER susceptibility to thyroid autoimmunity, and DQB1*0201 to celiac disease. 26884287 2016
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE We like to suggest that the haplotype HLA-DQA1*03-DQB1*03:03 (HLA-DQ9.3), which is common in Chinese, is a new susceptibility factor for CD in China. 26496305 2015
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Four modified sequence specific primers (SSP) pairs were designed for the selective amplification of coeliac disease associated alleles (DQA1*05, DQB1*02, DQB1*03:02 alleles), and human growth hormone (positive control). 26043316 2015
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE Associations of HLA-DR3-DQA1*05:01-DQB1*02:01 (i.e., DR3-DQ2) and, to a lesser extent, DR4-DQA1*03:01-DQB1*03:02 (i.e., DR4-DQ8) with the risk of CD differ by country, consistent with additional genetic heterogeneity that further refines risk. 26010309 2015
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE In this chapter we will present the principal technical methods to genotype the HLA-DQA1* and -DQB1* alleles associated with celiac disease (CD), corresponding to the serological heterodimers HLA-DQ2 and -DQ8. 26498615 2015
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 In the present study, we aimed to evaluate the frequency of polymorphisms that affects the structure of the enzymes superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px), with levels being dependent on the amount of oxidative stress and whether or not there is an association with the mutations DQA1*0501, DQB1*0201, and DRB1*04 that are frequently reported for CD. 24634124 2014
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE To predict the HLA-DQA1 and -DQB1 genes, we used six previously reported HLA-tagging single nucleotide polymorphism to determine HLA genotypes in 59 Iranian patients with 'biopsy-confirmed' CD and in 151 healthy Iranian individuals. 24876751 2014
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE celiac disease is associated with the HLA class II alleles: DQA1*05-DQB1*02 and DQB1*0302. 24274444 2013
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE For the development of classic gluten-sensitive CD a certain HLA haplotype involving the loci DQA1* and DQB1* and encoding two different HLA DQ heterodimers is the prerequisite. 23609110 2013
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE The risk for celiac disease (CD) is clearly related to specific HLA DQA1 and DQB1 alleles, but HLA -typing is often considered too costly for frequent use.Here we present a method using sequence-specific primed PCR (PCR-SSP) for HLA-DR-DQ genotyping optimized for capillary electrophoresis on Applied Biosystems 3130xl Genetic Analyzer. 22976110 2013
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE Patients with celiac disease (CD) lacking both human leukocyte antigen (HLA)-DQ2.5 in cis (DQA1*05:01, DQB1*02:01) or trans (DQA1*05:05, DQB1*02:02) configuration and HLA-DQ8 (DQA1*03:01, DQB1*03:02) are considered to be rare. 23085892 2013
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE Less frequently, CD occurs in individuals positive for the DQ2.x heterodimers (DQA1≠*05 and DQB1*02) and very rarely in patients negative for these DQ predisposing markers. 23050549 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE HLA-DQA1 and DQB1 molecular typing was performed in 218 adult CD patients (169 with uncomplicated CD, 27 with complicated CD, and 22 with potential CD) and 224 healthy stem cell donors. 21694611 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE This study confirms the existing data and provides additional evidence supporting a strong genetic predisposition for CD associated with the class II alleles DQB1*02 and DQA1*05 encoding the serological specificity DQ2. 23041663 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE We retrospectively reviewed the medical records of 127 consecutive cases of adult-onset celiac disease evaluated at a single United States center to determine the distribution of the associated human leukocyte antigen DQA1 and DQB1 alleles. 21292306 2011
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Moreover, the association with CD became stronger when B*08(B*08-DQA*0501-DQB1*0201-DRB1*0301, P = 5.07 x 10(-12)) was present in the DRB1*0301-DQB1*0201-DQA1*0501 (P = 5.00 x 10(-10)) extended haplotype. 20492597 2010