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Medicina is published by MDPI from Volume 54 Issue 1 (2018). Articles in this Issue were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence. Articles are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Lithuanian Medical Association, Lithuanian University of Health Sciences, and Vilnius University.
Open AccessArticle

Associations between NOD2, IRGM and ORMDL3 polymorphisms and pediatric-onset inflammatory bowel disease in the Lithuanian population

1
Department of Paediatrics, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
2
Laboratory of Clinical and Molecular Gastroenterology, Institute for Digestive Research, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
3
Department of Gastroenterology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
*
Author to whom correspondence should be addressed.
Medicina 2016, 52(6), 325-330; https://doi.org/10.1016/j.medici.2016.11.006
Received: 12 April 2015 / Revised: 25 October 2016 / Accepted: 16 November 2016 / Published: 25 November 2016
Background and objective: Recent GWAS and meta-analyses have revealed about 200 suscepti- bility genes/loci for inflammatory bowel diseases (IBD). However, only a small number of studies were performed in early-onset IBD. The aim of this study was to assess the association between NOD2, IL23R, ATG16L1, IRGM, IL10, NKX2-3 and ORMDL3 variants and early-onset IBD.
Materials and methods: A total of 76 affected individuals (30 with Crohn's disease [CD] and 46 with ulcerative colitis [UC]) at the age of ≤17 years and 158 matched controls recruited in Lithuania were genotyped for the known genetic susceptibility variants in NOD2 (Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847)), IL23R (rs11209026), ATG16L1 (rs2241880), IRGM (rs4958847), IL10 (rs3024505), NKX2-3 (rs11190140) and ORMDL3 (rs2872507) genes.
Results: Variants in NOD2 (Leu1007insC) and IRGM genes increased risk for CD (OR = 6.56, 95% CI: 2.54–16.91, P = 1.21 × 10−5 and OR = 2.32, 95% CI: 1.05–5.14, P = 0.033; respectively); whereas a variant in ORMDL3 gene was strongly associated with UC (OR = 1.99, 95% CI: 1.23–3.20, P = 4.15 × 10−3).
Conclusions: The results confirmed that polymorphisms in NOD2 (Leu1007insC) and IRGM genes are associated with increased risk of CD; whereas the ORMDL3 variant is associated with susceptibility to UC in the Lithuanian early-onset IBD population.
Keywords: Inflammatory bowel diseases; Crohn's disease; Ulcerative colitis; Early onset; Single nucleotide polymorphism Inflammatory bowel diseases; Crohn's disease; Ulcerative colitis; Early onset; Single nucleotide polymorphism
MDPI and ACS Style

Pranculienė, G.; Steponaitienė, R.; Skiecevičienė, J.; Kučinskienė, R.; Kiudelis, G.; Adamonis, K.; Labanauskas, L.; Kupčinskas, L. Associations between NOD2, IRGM and ORMDL3 polymorphisms and pediatric-onset inflammatory bowel disease in the Lithuanian population. Medicina 2016, 52, 325-330.

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