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 GeneticVariation disease BEFREE Individuals homozygous for DQ2 or heterozygous for DQA1*05-DQB1*02/DQA1*0201-DQB1*02 were found to be at five-fold increased risk for development of coeliac disease (P<10(-8)). 15014431 2004
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 GeneticVariation disease BEFREE Typing of DNA from 94 unrelated children with celiac disease (CD) with HLA-DQA1 and -DQB1 allele-specific oligonucleotide probes revealed that all but one (i.e., 98.9%) may share a particular combination of a DQA1 and a DQB1 gene. 2909659 1989
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 The DQA1*0501 and DQB1*0201 alleles (hereafter DQ2) confer genetic susceptibility to celiac disease (CD). 9129973 1997
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 Biomarker disease BEFREE A collaborative European search for non-DQA1*05-DQB1*02 celiac disease loci on HLA-DR3 haplotypes: analysis of transmission from homozygous parents. 12590980 2003
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Genetic investigation regarding all three patients revealed the existence of HLA DQ A1*0501 allele associated with susceptibility to coeliac disease. 11208478 2001
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE DQA1*0101 allele appears significantly in DS-CD + patients and deserves to be searched for in a larger sample to assess its meaning in the DS-CD association. 8890082 1996
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE We propose the use of the DQ-CD Typing kit that allows identification of the HLA class II alleles (DQA1*0201,*03,*05, DQB1*02,*0302, DRB1*03,*04,*07) selected to be informative in the CD risk evaluation and of a second kit, namely DQ-CD Zygosis, for DQB1*02 homozygosity determination. 18076355 2008
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE The vast majority of these T cells recognize gluten peptides when presented by HLA-DQ2 (DQA1*05/DQB1*02), a molecule which immunogenetic studies have identified as conferring susceptibility to CD. 11673490 2001
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE However other genetic factors are probably relevant, since about 10% of the patients with DH and CD lack the DQA1*0501/B1*0201 heterodimer while the majority of individuals presenting this genotype and also being exposed to gluten diets did not suffer from these diseases. 1627534 1992
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Both HLA alleles DQA1*05 and DQB1*02 are associated with a greatly increased risk of CD, although the latter has the greater effect. 17919990 2007
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE A gene dosage effect of the DQA1*0501/DQB1*0201 allelic combination influences the clinical heterogeneity of celiac disease. 7928444 1994
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE We selected 38 consecutive celiac disease (CD) patients (from a group of 316 consecutive CD patients) and 91 healthy blood donors, all of whom were HLA-DQ2 (DQA1*0501/DQB1*0201) negative, and investigated the presence of the classically associated alleles HLA-DQ8 and HLA-DRB4. 11862400 2002
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 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 Biomarker disease BEFREE High-resolution, sequence-specific oligonucleotide probe typing with 35 DQA1-specific and 37 DQB1-specific probes of DNA from more than 10,000 subjects was used to stratify risk of CD in an at-risk U.S. population. 19500688 2009
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 Biomarker disease BEFREE However, these DP alleles were in linkage disequilibrium with CD-associated DQ alleles in the normal population, and the difference in frequency of these DP alleles was no longer significant when CD patients and healthy controls carrying the CD-associated DQA1*0501 and DQB1*0201 alleles were compared. 1980918 1990
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Of CD patients, 92% (50% DR3 and 42% DR5,7) compared to 18% of the controls carry both DQA1*0501 and DQB1*0201 alleles, so that the combination confers an RR of 52, higher than both the risks of the single alleles (DQA1*0501 RR = 19, DQB1*0201 RR = 30), confirming the primary role of the dimer in determining genetic predisposition to CD both in DR3 and in DR5,7 subjects. 1563982 1992
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE An association with a 15 base-pair deletion in exon 12 of PRSS16 was found on the DRB1*03-DQA1*0501-DQB1*0201 haplotype for both T1D and CD, but it could not explain the more pronounced disease associations observed at marker D6S2223. 17584581 2007
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 BEFREE To elucidate the HLA DRB1, DQB1 and DQA1 polymorphism in Tunisian children with typical form of coeliac disease (CD) in comparison with those from mass screening (atypical and silent CD). 19474744 2009
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