Polymorphism in the NLRP3 inflammasome-associated EIF2AK2 gene and inflammatory bowel disease

Varghese,Geena  Paramel; Uporova,Ludmila; Halfvarson,Jonas; Sirsjö,Allan; Fransén,Karin

doi:10.3892/mmr.2015.3236

Polymorphism in the NLRP3 inflammasome-associated EIF2AK2 gene and inflammatory bowel disease

Authors:
- Geena Paramel Varghese
- Ludmila Uporova
- Jonas Halfvarson
- Allan Sirsjö
- Karin Fransén
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Affiliations: Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, Örebro SE‑70182, Sweden, Department of Gastroenterology, Faculty of Medicine and Health, Örebro University, Örebro SE‑70182, Sweden
Published online on: January 21, 2015 https://doi.org/10.3892/mmr.2015.3236
Pages: 4579-4584

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Abstract

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.

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