|
Esophageal Achalasia
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk.
|
24997987 |
2014 |
|
Esophageal Achalasia
|
0.520 |
SusceptibilityMutation
|
disease |
ORPHANET |
In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk.
|
24997987 |
2014 |
|
Esophageal Achalasia
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
All of the women and 66.7% of the men with achalasia and the DQB1*0603 allele or the DQA1*0103-DQB1*0603 heterodimer were positive for antibodies.
|
11837716 |
2002 |
|
Esophageal Achalasia
|
0.520 |
Biomarker
|
disease |
CTD_human |
In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk.
|
24997987 |
2014 |
|
Celiac Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease.
|
12651074 |
2003 |
|
Celiac Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Conspicuous frequencies of the alleles associated with susceptibility to CD were observed (DQA1*0501: 0.592, DQB1*0201: 0.471).
|
15120190 |
2004 |
|
Celiac Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
HLA in coeliac disease families: a novel test of risk modification by the 'other' haplotype when at least one DQA1*05-DQB1*02 haplotype is carried.
|
12392509 |
2002 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Celiac Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of the HLA-DQA1 and DQB1 alleles in 55 Turkish children with celiac disease and 50 control subjects was investigated by using an allele-specific DNA-based polymerase chain reaction-sequence-specific primer (PCR-SSP) method.
|
11556984 |
2001 |
|
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 |
|
Celiac Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
The presence of the DQ2 (DQA1*0501/DQB1*02) heterodimer is strongly associated with celiac disease in the population studied by the authors.
|
14581805 |
2003 |
|
Celiac Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the DQA1*0501 allele did not have a significant association with the severity of CD.
|
16484124 |
2006 |
|
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 |
|
Celiac Disease
|
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 |
|
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 |
|
Celiac Disease
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Conspicuous frequencies of the alleles associated with susceptibility to CD were observed (DQA1*0501: 0.592, DQB1*0201: 0.471).
|
15120190 |
2004 |
|
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 |
|
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 |
|
Celiac Disease
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
|
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 |
|
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 |