|
rs587777641
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
|
24614124 |
2014 |
|
rs587777642
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
|
24614124 |
2014 |
|
rs587777641
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.
|
21816778 |
2011 |
|
rs587777642
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.
|
21816778 |
2011 |
|
rs587777641
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.
|
20124439 |
2010 |
|
rs587777642
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.
|
20124439 |
2010 |
|
rs587777641
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.
|
19304573 |
2009 |
|
rs587777642
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.
|
19304573 |
2009 |
|
rs1567629968
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs199840952
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs555607708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs869025224
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs17388568
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that rs17388568-a risk variant for allergy, colitis and type 1 diabetes-was associated with increased anti-PD-1 response, with significance surpassing multiple testing adjustments (OR 0.26; 95% CI 0.12-0.53; p = 0.0002).
|
30863922 |
2019 |
|
rs187238
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, IL‑18 (rs187238, ‑137G/C) may have a dual function in colitis.
|
31017261 |
2019 |
|
rs748770316
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ABIN2[D310N] mice displayed intestinal inflammation and hypersensitivity to dextran sodium sulfate-induced colitis, an effect that was mediated by radiation-resistant cells rather than by hematopioetic cells.
|
30355787 |
2018 |
|
rs5743708
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Arg753Gln polymorphism showed no association with any clinical subtype of IBD, including extensive colitis, for which such an association was previously described.
|
28388655 |
2017 |
|
rs28362459
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratified analyses revealed that the frequencies of mutant allele (G) and genotype (TG+GG) of FUT3 (rs28362459) were significantly lower in patients with extensive colitis than those with distal colitis (P<0.001, 95%CI: 0.503-0.742; P = 0.001, 95%CI: 0.567-0.786, respectively).
|
26766790 |
2016 |
|
rs3745635
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Similar conclusions were drawn for the mutant allele (A) and genotype (GA+AA) of FUT3 (rs3745635) in patients with extensive colitis compared to those with distal colitis (P = 0.006, 95%CI: 0.553-0.845; P = 0.011, 95%CI: 0.621-0.900, respectively).
|
26766790 |
2016 |
|
rs121918338
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All patients were found to be homozygous for rare and deleterious mutant CARD9 alleles: R70W and Q289* for the 3 patients with Candida albicans-induced meningoencephalitis, R35Q for the patient with meningoencephalitis and colitis caused by Candida glabrata, and Q295* for the patient with Candida albicans-induced colitis.
|
25702837 |
2015 |
|
rs1454037218
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All patients were found to be homozygous for rare and deleterious mutant CARD9 alleles: R70W and Q289* for the 3 patients with Candida albicans-induced meningoencephalitis, R35Q for the patient with meningoencephalitis and colitis caused by Candida glabrata, and Q295* for the patient with Candida albicans-induced colitis.
|
25702837 |
2015 |
|
rs149491038
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast to our original hypothesis, no defect of the anti-inflammatory potential of TGFβ and IL10 was observed in children with IBD or EO-IBD except two infants who presented with granuloma-positive colitis at 3 months of life: no response to IL10 was observed secondary to mutations in the α (p.R262C) or β (p.E141X) chain of IL10R, respectively, although a fully functional Jak-STAT3 pathway was present in both patients.
|
21519361 |
2011 |