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rs4958847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.6 2.6x increased risk for Crohn's disease
(A;G) 1.3 1.3x increased risk for Crohn's disease
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome5
Position150860025
GeneIRGM
is asnp
is mentioned by
dbSNPrs4958847
ebirs4958847
HLIrs4958847
Exacrs4958847
Varsomers4958847
Maprs4958847
PheGenIrs4958847
hapmaprs4958847
1000 genomesrs4958847
hgdprs4958847
ensemblrs4958847
gopubmedrs4958847
geneviewrs4958847
scholarrs4958847
googlers4958847
pharmgkbrs4958847
gwascentralrs4958847
openSNPrs4958847
23andMers4958847
23andMe allrs4958847
SNP Nexus

SNPshotrs4958847
SNPdbers4958847
MSV3drs4958847
GWAS Ctlgrs4958847
GMAF0.3526
Max Magnitude2.6
? (A;A) (A;G) (G;G) 28
rs4958847 is a SNP in the IRGM gene.

A study of 507 CD patients, 475 UC patients and 576 controls from New Zealand Caucasians found that rs4958847, a SNP in the IRGM gene, was associated specifically with ileal Crohn's disease but not with other forms of inflammatory bowel disease. The reported odds ratio was 1.767, CI: 1.224-2.558, p=0.0022.[PMID 18580884]

Another study, including 557 Crohn's disease (CD) patients, 425 ulcerative colitis (UC) patients, and 672 ethnically matched Spanish controls as well as a meta-analysis concluded that rs4958847(A) was associated with CD (p=2.78 x 10(-17), pooled odds ratio 1.31) and UC (p=0.014, pooled odds ratio 1.13).[PMID 19491842]

Neighborrs1000113
Distance489


[PMID 19174780] Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort

OMIM612278
DescINFLAMMATORY BOWEL DISEASE 19; IBD19
Variant
Relatedalso
OMIM608212
DescIMMUNITY-RELATED GTPase FAMILY, M; IRGM
Variant
Relatedalso


[PMID 19953089] Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's disease


[PMID 22228152] Mutations in IRGM Are Associated With More Frequent Need for Surgery in Patients With Ileocolonic Crohn's Disease


[PMID 22713085] IRGM gene polymorphisms and risk of gastric cancer

[PMID 18438406OA-icon.png] Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.

[PMID 18853133OA-icon.png] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

[PMID 19098858] Polymorphism of the IRGM gene might predispose to fistulizing behavior in Crohn's disease.

[PMID 19140132OA-icon.png] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.

[PMID 19165925OA-icon.png] Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.

[PMID 19683022] Lack of association of NKX2-3, IRGM, and ATG16L1 inflammatory bowel disease susceptibility variants with celiac disease.

[PMID 20106866OA-icon.png] Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.

[PMID 20395867] Is there a role for Crohn's disease-associated autophagy genes ATG16L1 and IRGM in formation of granulomas?

[PMID 22065112] The JAK2 variant rs10758669 in Crohn's disease: altering the intestinal barrier as one mechanism of action.

[PMID 22508677] Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the korean population.


[PMID 24232856OA-icon.png] Association between Variants of the Autophagy Related Gene - IRGM and Susceptibility to Crohn's Disease and Ulcerative Colitis: A Meta-Analysis


[PMID 26066377] Autophagy and inflammatory bowel disease: Association between variants of the autophagy-related IRGM gene and susceptibility to Crohn's disease