rs11747270

This is a intron variant variant in the IRGM gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Crohn's disease

Barrett JC et al. “Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.” Nature Genetics 40(8):955-62 (2008)
Allele G
OR 1.33
p 3.0e-16
N 8,059
Large GWAS
European
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Research that mentions this SNP (2)

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The JAK2 variant rs10758669 in Crohn’s disease: altering the intestinal barrier as one mechanism of action
AssociationN=1,206Matthias Prager et al.(2012)· International Journal of Colorectal Disease

JAK2 variant rs10758669 significantly increases susceptibility to Crohn's disease (p=0.026, OR=1.25) and is associated with increased intestinal permeability (p=0.004, OR=2.996), suggesting a barrier dysfunction mechanism in IBD pathogenesis. STAT3 rs744166 also increased CD risk (p=0.04, OR=0.83), while IRGM variants showed no association with disease. The findings highlight JAK2's role in epithelial barrier function independent of NOD2 genotype.

Traits studied:Crohn's diseaseIntestinal permeabilityUlcerative colitis
PubMedDOIMetascience Observatory
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Distinct and overlapping genetic loci in crohnʼs disease and ulcerative colitis: Correlations with pathogenesis
AssociationN=3,431Matti Waterman et al.(2011)· Inflammatory Bowel Diseases

This study examined 40 SNPs (34 CD-associated and 6 UC-associated) in 2374 Canadian IBD patients (1144 CD, 1230 UC/IBDU) and 1057 healthy controls. While most immune-related variants showed similar frequencies between CD and UC, the two diseases diverged significantly in genes related to innate immunity and autophagy (NOD2, ATG16L1, IRGM), which were more prevalent in CD. In patients with colon-only CD, genetic overlap with UC was nearly complete, suggesting a shared genetic basis for colonic disease.

Traits studied:Crohn's diseaseInflammatory bowel disease (IBD)Ulcerative colitis
PubMedDOIMetascience Observatory

About IRGM

This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]

View all IRGM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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