title: Polymorphism in the NLRP3 inflammasome-associated EIF2AK2 gene and inflammatory bowel disease.
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.
authors.affiliation: Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, Örebro SE‑70182, Sweden.
authors.forename: Geena Paramel
authors.initials: GP
authors.lastname: Varghese
authors.affiliation: Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, Örebro SE‑70182, Sweden.
authors.forename: Ludmila
authors.initials: L
authors.lastname: Uporova
authors.affiliation: Department of Gastroenterology, Faculty of Medicine and Health, Örebro University, Örebro SE‑70182, Sweden.
authors.forename: Jonas
authors.initials: J
authors.lastname: Halfvarson
authors.affiliation: Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, Örebro SE‑70182, Sweden.
authors.forename: Allan
authors.initials: A
authors.lastname: Sirsjö
authors.affiliation: Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, Örebro SE‑70182, Sweden.
authors.forename: Karin
authors.initials: K
authors.lastname: Fransén
mesh_terms: D020121:5' Untranslated Regions; D000328:Adult; D000483:Alleles; D015331:Cohort Studies; D005260:Female; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D019892:eIF-2 Kinase / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; C583541:EIF2AK1 protein, human; D019892:eIF-2 Kinase