IRGM: Difference between revisions
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==Clinical relevance== | ==Clinical relevance== | ||
Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to [[Crohn's disease]] and [[tuberculosis]].<ref name="pmid20106866">{{cite journal |vauthors=Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG | title = Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease | journal = Hum. Mol. Genet. | volume = 19 | issue = 9 | pages = 1828–39 |date=May 2010 | pmid = 20106866 | pmc = 2850616 | doi = 10.1093/hmg/ddq041 }}</ref> | Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to [[Crohn's disease]] and [[tuberculosis]].<ref name="pmid20106866">{{cite journal |vauthors=Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG | title = Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease | journal = Hum. Mol. Genet. | volume = 19 | issue = 9 | pages = 1828–39 |date=May 2010 | pmid = 20106866 | pmc = 2850616 | doi = 10.1093/hmg/ddq041 | url = https://dash.harvard.edu/bitstream/handle/1/4706587/2850616.pdf?sequence=1 }}</ref> | ||
==References== | ==References== |
Latest revision as of 12:24, 4 November 2018
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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Immunity-related GTPase family M protein (IRGM), also known as interferon-inducible protein 1 (IFI1), is an enzyme that in humans is IRGM gene.[1]
IRGM is a member of the interferon-inducible GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens.
Clinical relevance
Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis.[2]
References
- ↑ "Entrez Gene: immunity-related GTPase family".
- ↑ Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG (May 2010). "Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease" (PDF). Hum. Mol. Genet. 19 (9): 1828–39. doi:10.1093/hmg/ddq041. PMC 2850616. PMID 20106866.
Further reading
- Laukens D, Georges M, Libioulle C, et al. (2010). "Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis". PLoS ONE. 5 (11): e13795. doi:10.1371/journal.pone.0013795. PMC 2970560. PMID 21072187.
- Henckaerts L, Van Steen K, Verstreken I, et al. (2009). "Genetic risk profiling and prediction of disease course in Crohn's disease patients". Clin. Gastroenterol. Hepatol. 7 (9): 972–980.e2. doi:10.1016/j.cgh.2009.05.001. PMID 19422935.
- Palomino-Morales RJ; Oliver J; Gómez-GarcÃa M; et al. (2009). "Association of ATG16L1 and IRGM genes polymorphisms with inflammatory bowel disease: a meta-analysis approach". Genes Immun. 10 (4): 356–64. doi:10.1038/gene.2009.25. PMID 19491842.
- Intemann CD, Thye T, Niemann S, et al. (2009). "Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains". PLoS Pathog. 5 (9): e1000577. doi:10.1371/journal.ppat.1000577. PMC 2735778. PMID 19750224.
- Che N, Li S, Gao T, et al. (2010). "Identification of a novel IRGM promoter single nucleotide polymorphism associated with tuberculosis". Clin. Chim. Acta. 411 (21–22): 1645–9. doi:10.1016/j.cca.2010.06.009. PMID 20547146.
- Craddock N, Hurles ME, et al. (2010). "Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls". Nature. 464 (7289): 713–20. doi:10.1038/nature08979. PMC 2892339. PMID 20360734.
- Franke A, McGovern DP, Barrett JC, et al. (2010). "Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci". Nat. Genet. 42 (12): 1118–25. doi:10.1038/ng.717. PMC 3299551. PMID 21102463.
- Dema B; Fernández-Arquero M; Maluenda C; et al. (2009). "Lack of association of NKX2-3, IRGM, and ATG16L1 inflammatory bowel disease susceptibility variants with celiac disease". Hum. Immunol. 70 (11): 946–9. doi:10.1016/j.humimm.2009.08.004. PMID 19683022.
- Zhang ZD, Frankish A, Hunt T, et al. (2010). "Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates". Genome Biol. 11 (3): R26. doi:10.1186/gb-2010-11-3-r26. PMC 2864566. PMID 20210993.
- Wolfkamp SC, Te Velde AA, Weersma RK, et al. (2010). "Is there a role for Crohn's disease-associated autophagy genes ATG16L1 and IRGM in formation of granulomas?". Eur J Gastroenterol Hepatol. 22 (8): 933–7. doi:10.1097/MEG.0b013e32833775e6. PMID 20395867.
- Singh SB, Ornatowski W, Vergne I, et al. (2010). "Human IRGM regulates autophagy and cell-autonomous immunity functions through mitochondria". Nat. Cell Biol. 12 (12): 1154–65. doi:10.1038/ncb2119. PMC 2996476. PMID 21102437.
- Latiano A, Palmieri O, Corritore G, et al. (2010). "Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease". Inflamm. Bowel Dis. 16 (7): 1108–17. doi:10.1002/ibd.21176. PMID 20024904.
- Delgado M, Singh S, De Haro S, et al. (2009). "Autophagy and pattern recognition receptors in innate immunity". Immunol. Rev. 227 (1): 189–202. doi:10.1111/j.1600-065X.2008.00725.x. PMC 2788953. PMID 19120485.
- Törkvist L, Halfvarson J, Ong RT, et al. (2010). "Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients". Inflamm. Bowel Dis. 16 (6): 907–9. doi:10.1002/ibd.21105. PMID 19760754.
- Budarf ML, Goyette P, Boucher G, et al. (2011). "A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles". Genes Immun. 12 (1): 51–8. doi:10.1038/gene.2010.47. PMID 20962850.
- Bekpen C, Xavier RJ, Eichler EE (2010). "Human IRGM gene "to be or not to be"". Semin Immunopathol. 32 (4): 437–44. doi:10.1007/s00281-010-0224-x. PMID 20737271.
- Cleynen I, Mahachie John JM, Henckaerts L, et al. (2010). "Molecular reclassification of Crohn's disease by cluster analysis of genetic variants". PLoS ONE. 5 (9): e12952. doi:10.1371/journal.pone.0012952. PMC 2944846. PMID 20886065.
- Wagner J, Sim WH, Ellis JA, et al. (2010). "Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort". PLoS ONE. 5 (11): e15376. doi:10.1371/journal.pone.0015376. PMC 2975706. PMID 21079743.
- Meggyesi N, Kiss LS, Koszarska M, et al. (2010). "NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients". World J. Gastroenterol. 16 (41): 5233–40. doi:10.3748/wjg.v16.i41.5233. PMC 2975094. PMID 21049557.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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