rs4958847
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 150860025 |
| Gene | IRGM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4958847 |
| dbSNP (classic) | rs4958847 |
| ClinGen | rs4958847 |
| ebi | rs4958847 |
| HLI | rs4958847 |
| Exac | rs4958847 |
| Gnomad | rs4958847 |
| Varsome | rs4958847 |
| LitVar | rs4958847 |
| Map | rs4958847 |
| PheGenI | rs4958847 |
| Biobank | rs4958847 |
| 1000 genomes | rs4958847 |
| hgdp | rs4958847 |
| ensembl | rs4958847 |
| geneview | rs4958847 |
| scholar | rs4958847 |
| rs4958847 | |
| pharmgkb | rs4958847 |
| gwascentral | rs4958847 |
| openSNP | rs4958847 |
| 23andMe | rs4958847 |
| SNPshot | rs4958847 |
| SNPdbe | rs4958847 |
| MSV3d | rs4958847 |
| GWAS Ctlg | rs4958847 |
| GMAF | 0.3526 |
| Max Magnitude | 2.6 |
| ? | (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]
[PMID 19174780] Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort
[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 18438406
] Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
[PMID 18853133] 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 19140132] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.
[PMID 19165925] 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 20106866] 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 24232856] 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
[PMID 31654602] Genetic Polymorphisms of ATG16L1 and IRGM genes in Malaysian Patients with Crohn's Disease.
[PMID 31714311] Clinical and Genetic Factors Impact Time to Surgical Recurrence After Ileocolectomy for Crohn Disease.
