|
rs1063348
|
HLA-DQB1;HLA-DQB1-AS1
|
Steroid-sensitive nephrotic syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
Increased burden of risk alleles across independent loci was associated with higher odds of SSNS, with younger age of onset across all cohorts, and with increased odds of complete remission across histologies in NEPTUNE children. rs1063348 associated with decreased glomerular expression of HLA-DRB1, HLA-DRB5, and HLA-DQB1.<b>Conclusions</b> Transethnic GWAS empowered discovery of three independent risk SNPs for pediatric SSNS.
|
29903748 |
2018 |
|
rs1063355
|
HLA-DQB1;HLA-DQB1-AS1
|
Age related macular degeneration
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of 12 miRNAs significantly elevated in AAMD retina (hsa-miR-155-5p, hsa-let-7a-5p, hsa-let-7b-5p hsa-let-7d-5p) also showed strong pairing capacity (TarBase 7.1 context++ score <-0.2, miRanda 3.3 pairing score >150) with miRNA target transcripts encoded by AAMD-associated SNPs resident in HLA-DQB1 (rs1063355, hsa-miR-155-5p) and TGFBR1 (rs868, hsa-let-7).
|
28343170 |
2017 |
|
rs1130399
|
HLA-DQB1
|
Mild cognitive disorder
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we detected the above four associations in mild cognitive impairment (MCI) sub-group analysis, and two risk loci (rs35445101 and rs1130399) were also the smaller baseline volume of the left posterior cingulate in (NC) sub-group analysis.
|
27056075 |
2017 |
|
rs41563814
|
HLA-DQB1
|
Age related macular degeneration
|
|
0.010 |
GeneticVariation |
BEFREE |
We confirmed these association signals, again conditioning on established risk variants, in the MMAP data set of subjects with advanced AMD (rs9274390/rs41563814: OR=1.28; P=1.30 × 10(-3), DQB1*02: OR=1.32; P=9.00 × 10(-4)).
|
26733291 |
2016 |
|
rs9274390
|
HLA-DQB1
|
Age related macular degeneration
|
|
0.010 |
GeneticVariation |
BEFREE |
We confirmed these association signals, again conditioning on established risk variants, in the MMAP data set of subjects with advanced AMD (rs9274390/rs41563814: OR=1.28; P=1.30 × 10(-3), DQB1*02: OR=1.32; P=9.00 × 10(-4)).
|
26733291 |
2016 |
|
rs1140343
|
HLA-DQB1
|
Steroid-sensitive nephrotic syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1129740, rs9273349, rs1071630, and rs1140343) were significantly associated with SSNS at or near the Bonferroni-adjusted P value for the number of single variants that were tested (odds ratio, 2.11; 95% confidence interval, 1.56 to 2.86; P=1.68×10(-6) (Fisher exact test).
|
25349203 |
2015 |
|
rs9274407
|
HLA-DQB1
|
Drug-Induced Liver Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
The strongest effect was with an HLA class II SNP (rs9274407, P=4.8×10(-14)), which correlated with rs3135388, a tag SNP of HLA-DRB1*1501-DQB1*0602 that was previously associated with AC-DILI.
|
21570397 |
2011 |
|
rs1063355
|
HLA-DQB1;HLA-DQB1-AS1
|
Asthma
|
|
0.010 |
GeneticVariation |
BEFREE |
The HLA-DR/DQ region on chromosome 6p21.3 was also associated with asthma: rs1063355 in the 3' untranslated region of HLA-DQB1 (P = 9.55E-06).
|
20159242 |
2010 |
|
rs281862059
|
HLA-DQB1
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
Studies on IDDM5 have led to the discovery of a novel polymorphism 163 A-->G (M55V) in SUMO4 gene, which was found to be associated with T1D patients with Asian origin.
|
17448564 |
2007 |
|
rs9273643
|
HLA-DQB1
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of our study was to evaluate the frequency of the L-selectin gene T668C mutation (from thymine to cytosine at position 668) resulted in F206L an amino acid substitution in patients with overt diabetes and their unaffected first degree relatives in comparison to the unselected control population.
|
11064106 |
2000 |
|
rs9273643
|
HLA-DQB1
|
Diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of our study was to evaluate the frequency of the L-selectin gene T668C mutation (from thymine to cytosine at position 668) resulted in F206L an amino acid substitution in patients with overt diabetes and their unaffected first degree relatives in comparison to the unselected control population.
|
11064106 |
2000 |
|
rs9273643
|
HLA-DQB1
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
It was also shown that there is an association between T668C mutation and low HLA related risk of IDDM development, the highest frequency of F206L mutation in the EGF domain of L-selectin was observed in relatives with 'protective' HLA DQB1*0602 allele and nonDRB1*03-nonDRB1*04 haplotype, while in subjects with highest risk of IDDM haplotype the frequency of T668C mutation was similar to the controls.
|
11064106 |
2000 |
|
rs201184533
|
HLA-DQB1
|
Asthma
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
|
30929738 |
2019 |
|
rs2854275
|
HLA-DQB1;HLA-DQB1-AS1
|
Major Depressive Disorder
|
|
0.700 |
GeneticVariation |
GWASCAT |
Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.
|
31619474 |
2019 |
|
rs2854275
|
HLA-DQB1;HLA-DQB1-AS1
|
Asthma
|
|
0.700 |
GeneticVariation |
GWASCAT |
Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.
|
31619474 |
2019 |
|
rs28724231
|
HLA-DQB1;HLA-DQB1-AS1
|
Arthritis, Psoriatic
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.
|
30552173 |
2019 |
|
rs77296290
|
HLA-DQB1
|
Schizophrenia
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
|
30285260 |
2019 |
|
rs9273404
|
HLA-DQB1;HLA-DQB1-AS1
|
Chronic Obstructive Airway Disease
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.
|
30804561 |
2019 |
|
rs9273410
|
HLA-DQB1;HLA-DQB1-AS1
|
Asthma
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.
|
30552067 |
2019 |
|
rs9273542
|
HLA-DQB1;HLA-DQB1-AS1
|
Nephrotic Syndrome
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
|
31263063 |
2019 |
|
rs9274247
|
HLA-DQB1
|
peak expiratory flow (procedure)
|
A |
0.700 |
GeneticVariation |
GWASCAT |
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
|
30804560 |
2019 |
|
rs9274247
|
HLA-DQB1
|
Forced expiratory volume function
|
A |
0.700 |
GeneticVariation |
GWASCAT |
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
|
30804560 |
2019 |
|
rs9274659
|
HLA-DQB1
|
Asthma
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.
|
31036433 |
2019 |
|
rs1063348
|
HLA-DQB1;HLA-DQB1-AS1
|
Nephrotic Syndrome
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.
|
29903748 |
2018 |
|
rs1063355
|
HLA-DQB1;HLA-DQB1-AS1
|
Diabetes Mellitus, Non-Insulin-Dependent
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
|
30054458 |
2018 |