rs3197999
|
APEH;MST1
|
Inflammatory Bowel Diseases
|
A |
0.850 |
GeneticVariation |
GWASDB |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
|
23128233 |
2012 |
rs3197999
|
APEH;MST1
|
Inflammatory Bowel Diseases
|
|
0.850 |
GeneticVariation |
BEFREE |
Therefore, the gain of function observed with rs3197999 in MST1 might provide a cellular mechanism for the consistent association of this polymorphism with an increased risk for IBD and PSC.
|
22237417 |
2012 |
rs3197999
|
APEH;MST1
|
Inflammatory Bowel Diseases
|
|
0.850 |
GeneticVariation |
BEFREE |
Importantly, we discovered that serum protein levels of MST1 (Macrophage Stimulating 1) were regulated by SNP rs3197999 (p = 5.96E-10, FDR<5%), an accepted GWAS locus for IBD.
|
28129359 |
2017 |
rs3197999
|
APEH;MST1
|
Inflammatory Bowel Diseases
|
|
0.850 |
GeneticVariation |
BEFREE |
R689C is predicted to interfere with MSP binding to its receptor, suggesting a role for this gene in the pathogenesis of IBD.
|
19079170 |
2008 |
rs3197999
|
APEH;MST1
|
Inflammatory Bowel Diseases
|
A |
0.850 |
GeneticVariation |
GWASCAT |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
|
23128233 |
2012 |
rs3197999
|
APEH;MST1
|
Inflammatory Bowel Diseases
|
|
0.850 |
GeneticVariation |
GWASCAT |
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
|
28067908 |
2017 |
rs3197999
|
APEH;MST1
|
Inflammatory Bowel Diseases
|
|
0.850 |
GeneticVariation |
BEFREE |
The polymorphisms rs9858542 (BSN) and rs3197999 (MST1), on 3p21 locus, have been found associated with susceptibility to IBD.
|
20024904 |
2010 |
rs3197999
|
APEH;MST1
|
Inflammatory Bowel Diseases
|
|
0.850 |
GeneticVariation |
BEFREE |
Genome-wide association studies have identified and repeatedly confirmed the association of rs3197999 in MST1 with inflammatory bowel disease (IBD).
|
26355565 |
2015 |
rs3197999
|
APEH;MST1
|
Crohn Disease
|
|
0.830 |
GeneticVariation |
BEFREE |
After stepwise logistic regression, the 2 variants were associated in adult UC with distal colitis (P(rs9858542) = 0.013, odds ratio [OR] = 2.04, 95% confidence interval [CI] = 1.16-3.59; P(rs3197999) = 0.018, OR 1.9, 95% CI 1.2-3.3), while the rs3197999 variant was inversely associated with occurrence of extraintestinal manifestations in adult CD(P = 0.017, OR 0.6, 95% CI 0.4-0.9).
|
20024904 |
2010 |
rs3197999
|
APEH;MST1
|
Crohn Disease
|
A |
0.830 |
GeneticVariation |
GWASDB |
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
|
21102463 |
2010 |
rs3197999
|
APEH;MST1
|
Crohn Disease
|
|
0.830 |
GeneticVariation |
BEFREE |
We then identified a non-synonymous coding variant (rs3197999, R689C) in the macrophage-stimulating 1 (MST1) gene (P-value 3.62 x 10(-6)) that accounts for the association signal, and shows association with both CD and UC.
|
19079170 |
2008 |
rs3197999
|
APEH;MST1
|
Crohn Disease
|
|
0.830 |
GeneticVariation |
BEFREE |
Protein characterization of a candidate mechanism SNP for Crohn's disease: the macrophage stimulating protein R689C substitution.
|
22087277 |
2011 |
rs3197999
|
APEH;MST1
|
Crohn Disease
|
A |
0.830 |
GeneticVariation |
GWASCAT |
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
|
18587394 |
2008 |
rs3197999
|
APEH;MST1
|
Crohn Disease
|
|
0.830 |
GeneticVariation |
GWASCAT |
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
|
26974007 |
2016 |
rs3197999
|
APEH;MST1
|
Crohn Disease
|
A |
0.830 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
|
21102463 |
2010 |
rs3197999
|
APEH;MST1
|
Crohn Disease
|
A |
0.830 |
GeneticVariation |
GWASDB |
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
|
18587394 |
2008 |
rs3197999
|
APEH;MST1
|
Crohn Disease
|
|
0.830 |
GeneticVariation |
GWASCAT |
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
|
28067908 |
2017 |
rs3197999
|
APEH;MST1
|
Crohn Disease
|
A |
0.830 |
GeneticVariation |
GWASCAT |
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
|
26192919 |
2015 |
rs3197999
|
APEH;MST1
|
Ulcerative Colitis
|
|
0.820 |
GeneticVariation |
BEFREE |
We then identified a non-synonymous coding variant (rs3197999, R689C) in the macrophage-stimulating 1 (MST1) gene (P-value 3.62 x 10(-6)) that accounts for the association signal, and shows association with both CD and UC.
|
19079170 |
2008 |
rs3197999
|
APEH;MST1
|
Ulcerative Colitis
|
|
0.820 |
GeneticVariation |
GWASCAT |
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
|
26974007 |
2016 |
rs3197999
|
APEH;MST1
|
Ulcerative Colitis
|
|
0.820 |
GeneticVariation |
GWASCAT |
A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.
|
25082827 |
2014 |
rs3197999
|
APEH;MST1
|
Ulcerative Colitis
|
|
0.820 |
GeneticVariation |
BEFREE |
After stepwise logistic regression, the 2 variants were associated in adult UC with distal colitis (P(rs9858542) = 0.013, odds ratio [OR] = 2.04, 95% confidence interval [CI] = 1.16-3.59; P(rs3197999) = 0.018, OR 1.9, 95% CI 1.2-3.3), while the rs3197999 variant was inversely associated with occurrence of extraintestinal manifestations in adult CD(P = 0.017, OR 0.6, 95% CI 0.4-0.9).
|
20024904 |
2010 |
rs3197999
|
APEH;MST1
|
Ulcerative Colitis
|
|
0.820 |
GeneticVariation |
GWASCAT |
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
|
28067908 |
2017 |
rs3197999
|
APEH;MST1
|
Ulcerative Colitis
|
T |
0.820 |
GeneticVariation |
GWASCAT |
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
|
20228799 |
2010 |
rs3197999
|
APEH;MST1
|
Ulcerative Colitis
|
A |
0.820 |
GeneticVariation |
GWASCAT |
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
|
26192919 |
2015 |