HLA-DQA1
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
HLA-DQA1
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
HLA-DQA1
|
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 |
HLA-DQA1
|
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 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In dermatitis herpetiformis, as in celiac disease, the strongest association of disease was with the DQ subregion alleles DQB1*0201 and DQA1*0501 that are linked to the DRB1*0301 allele.
|
1919044 |
1991 |
HLA-DQA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, the celiac disease associated DQA1 and DQB1 genes encode a functionally expressed DQ alpha/beta heterodimer.
|
1972714 |
1990 |
HLA-DQA1
|
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 |
HLA-DQA1
|
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 |
HLA-DQA1
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
CD is a gluten-sensitive enteropathy, strongly associated with expression of the DQA1*0501, DQB1*0201 genotype.
|
7558926 |
1995 |
HLA-DQA1
|
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 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study confirms that the MHC-linked celiac disease susceptibility among Ashkenazi Jews is closely associated with the presence of the combination of alleles DQA1*0501 DQB1*0201.
|
8138422 |
1993 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic susceptibility of celiac disease is primarily associated with a particular combination of and HLA-DQA1/DQB1 gene; however, this does not fully account for the genetic predisposition.
|
8253354 |
1993 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We propose that, in individuals carrying the DQA1*0501 and DQB1*0201 alleles, the presence of a second copy of the DQB1*0201 allele increases susceptibility to CD.
|
8362409 |
1993 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Asp57-negative HLA DQ beta chain and DQA1*0501 allele are essential for the onset of DQw2-positive and DQw2-negative coeliac disease.
|
8419077 |
1993 |
HLA-DQA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
The heterodimer HLA-DQB1*0201/-DQA1*0501, present in 96% of our patients, is strongly associated with CD susceptibility, confirming published reports.
|
8590546 |
1995 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Dermatitis herpetiformis (DH) and coeliac disease (CD) are gluten-sensitive diseases which have a common immunogenetic background, with the histocompatibility locus antigen (HLA) alleles DQ A1*0501 and B1*0201 in the short arm of chromosome 6.
|
8731659 |
1996 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The primary association of CD with the DQA1*0501 and DQB1*0201 alleles, rather than with HLA haplotypes, was confirmed in multiplex families.
|
8803535 |
1996 |
HLA-DQA1
|
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 |
HLA-DQA1
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
Polymorphism of the 5' flanking region of the HLA-DQA1 gene in coeliac disease.
|
9098408 |
1993 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The DQA1*0501 and DQB1*0201 alleles (hereafter DQ2) confer genetic susceptibility to celiac disease (CD).
|
9129973 |
1997 |
HLA-DQA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Homozygosity for DQA1*0501 would restrain susceptibility to CD and DH.
|
9243756 |
1997 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that in addition to the DQ2 heterodimer, the other major risk alleles for CD are DR4 DQ8, and either DQA1*0501 or DQB1*02 alone.
|
9548076 |
1998 |
HLA-DQA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Susceptibility to coeliac disease is associated with a particular HLA-DQ alpha beta heterodimer encoded by the DQA1*0501 and DQB1*02 genes.
|
9587738 |
1998 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
There is a tight HLA association between CD and the HLA DQ alleles DQA1*0501, DQB1*0201 (DQ2), arranged in either cis- or trans- configuration, are found in 98.9% of cases in Northern European populations and 80% in Greeks and Ashkenazi Jews resident in Israel.
|
9659975 |
1998 |
HLA-DQA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Celiac disease (CD) patients usually express a DQ2 heterodimer, whose chains DQalpha1*0501/DQbeta1*0201, are encoded by the genes HLA-DQA1*0501 and DQB1*0201, respectively.
|
10398807 |
1999 |