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Polymorphism in the NLRP3 inflammasome-associated EIF2AK2 gene and inflammatory bowel disease
Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.ORCID iD: 0000-0002-4589-6440
Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.ORCID iD: 0000-0003-0122-7234
Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.ORCID iD: 0000-0002-0278-4510
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2015 (English)In: Molecular Medicine Reports, ISSN 1791-2997, E-ISSN 1791-3004, Vol. 11, no 6, 4579-4584 p.Article in journal (Refereed) Published
Abstract [en]

Inflammatory bowel disease (IBD) is the common name for numerous relapsing inflammatory conditions, and is the collective name for Crohn's disease (CD) and ulcerative colitis (UC). The activation of the inflammasome in the pathogenesis of IBD has recently been identified, however the underlying mechanisms remain unclear. An activator of the inflammasome is double-stranded RNA-dependent protein kinase R, also termed EIF2AK2. A genetic alteration in the EIF2AK2 gene has previously been shown to be associated with Alzheimer's disease. The present study genotyped samples from a Swedish cohort of patients with IBD and healthy controls for an EIF2AK2 polymorphism. The rs2254958 polymorphism in the 5'-untranslated region of the EIF2AK2 gene was genotyped by TaqMan® single nucleotide polymorphism genotyping, followed by allelic discrimination. However, no significant association was determined between the rs2254958 polymorphism and the development of IBD, or clinical outcome. In conclusion, the results of the present study suggest that the rs2254958 polymorphism has a limited effect on the onset or progression of IBD.

Place, publisher, year, edition, pages
2015. Vol. 11, no 6, 4579-4584 p.
Keyword [en]
EIF2AK2; Inflammasome; NLRP3; Polymorphism; Protein kinase R; Rs2254958
National Category
Medical and Health Sciences Cancer and Oncology
Research subject
Biomedicine
Identifiers
URN: urn:nbn:se:oru:diva-41505DOI: 10.3892/mmr.2015.3236ISI: 000355497100083PubMedID: 25607115Scopus ID: 2-s2.0-84924674689OAI: oai:DiVA.org:oru-41505DiVA: diva2:780555
Funder
Swedish Research Council, 521-2011-2764Magnus Bergvall Foundation
Note

Funding Agencies:

Örebro University (Örebro, Sweden)

Bengt Ihre's Foundation

Nanna Svartz's Foundation

Örebro University Hospital Research Foundation

Örebro County Research Foundation

Swedish Foundation for Gastrointestinal Research

Available from: 2015-01-14 Created: 2015-01-14 Last updated: 2017-03-21Bibliographically approved

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Paramel, GeenaHalfvarson, JonasSirsjö, AllanFransén, Karin
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