|
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 |
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 |
|
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 |
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.500 |
Biomarker
|
disease |
BEFREE |
The Montecarlo Exact Fisher Test demonstrated marked differences in all three Loci, DQA1, DQB1, DRB1 (p<0.0001) between AP versus both AITD and controls, as well as between AP type II (Addison's disease as major endocrine component) and AP type III (T1D + AITD).
|
31675055 |
2019 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The heterozygous DQ2/8 (DQA1*05:01-DQB1*02:01/DQA1*03:01-DQB1*03:02) genotype confers the highest risk in type 1 diabetes (T1D), whereas the DQ6/8 (DQA1*02:01-DQB1*06:02/DQA1*03:01-DQB1*03:02) genotype is protective.
|
30626607 |
2019 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A strong positive association of DRB1*04-DQA1*0301-DQBl*0302 (OR=5.67, p<0.001) and DRB1*0301-DQA1*0501-DQB1*0201 (OR=6.24, p<0.001) putative haplotypes with IDDM was evident in Jordanian IDDM patients whereas DRB1*1101-DQA1*0505- DQB1*0301 (OR=0.23, p=0.03) was shown to have a protective role against T1D in Jordanians.
|
31742498 |
2019 |
|
Diabetes Mellitus, Insulin-Dependent
|
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 |
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 |
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
By examining the epigenetic methylation maps of cord blood samples, we found marked differences in the methylation status of CpG sites within the MHC genes (cis-metQTLs) between carriers of the type 1 diabetes risk haplotypes HLA-DRB1*03-DQA1*0501-DQB1*0201 (DR3-DQ2) and HLA-DRB1*04-DQA1*0301-DQB1*0302 (DR4-DQ8).
|
29224923 |
2018 |
|
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 |
|
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 |
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The association of DR4/DR8 heterozygous genotype suggested the pathologic importance of trans-complementing DQα-β heterodimer molecules encoded by DQA1 allele of one haplotype and the DQB1 allele of the other haplotype, as it was proposed in the HLA association studies of Type 1 diabetes.
|
29088299 |
2017 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Participants were aged 1-24 years.T1D was significantly associated with DR3, DQA1∗05:01, DQB1∗02:01, and DR3-DR4.
|
28808665 |
2017 |
|
Diabetes Mellitus, Insulin-Dependent
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genotypes generated by the association of markers Arg52 DQA1 positive and Asp57 DQB1 negative increase T1D susceptibility much more than one would expected by a simple additive effect of those markers separately (OR = 26.9).
|
28834219 |
2017 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition to confirming known associations, a systemic lupus erythematosus-associated risk variant at TNXB was also associated with CKD attributed to type 1 diabetes (p = 2.5 × 10<sup>-</sup><sup>7</sup>), a membranous nephropathy-associated variant at HLA-DQA1 was also associated with CKD attributed to systemic lupus erythematosus (p = 5.9 × 10<sup>-</sup><sup>6</sup>), and an IgA risk variant at HLA-DRB1 was associated with both CKD attributed to granulomatosis with polyangiitis (p = 2.0 × 10<sup>-4</sup>) and to type 1 diabetes (p = 4.6 × 10<sup>-11</sup>).
|
29066732 |
2017 |
|
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 |
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 |
|
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 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.500 |
Biomarker
|
disease |
BEFREE |
We also confirm that genetic susceptibility to T1D is associated with the DRB1*03:01-DQA1*05:01-DQB1*02:01 and DRB1*04-DQA1*03:01-DQB1*03:02 haplotypes in Brazilian northeast region.
|
26492519 |
2016 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the relatives with DRB1*15:01-DQA1*01:02-DQB1*06:02 less frequently expressed autoantibodies associated with higher T1D risk, were less likely to have multiple autoantibodies at baseline, and rarely converted from single to multiple autoantibody positivity on follow-up.
|
26822082 |
2016 |