Sventoraityte J, Zvirbliene A, Franke A, Kwiatkowski R, Kiudelis G, Kupcinskas L, Schreiber S. NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease. World J Gastroenterol 2010; 16(3): 359-364 [PMID: 20082483 DOI: 10.3748/wjg.v16.i3.359]
Corresponding Author of This Article
Limas Kupcinskas, Professor, Department of Gastroenterology, Kaunas University of Medicine, A. Mickeviciaus Street 9, LT-44307 Kaunas, Lithuania. likup@takas.lt
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World J Gastroenterol. Jan 21, 2010; 16(3): 359-364 Published online Jan 21, 2010. doi: 10.3748/wjg.v16.i3.359
NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease
Jurgita Sventoraityte, Aida Zvirbliene, Andre Franke, Ruta Kwiatkowski, Gediminas Kiudelis, Limas Kupcinskas, Stefan Schreiber
Jurgita Sventoraityte, Aida Zvirbliene, Gediminas Kiudelis, Limas Kupcinskas, Department of Gastroenterology, Kaunas University of Medicine, LT-44307 Kaunas, Lithuania
Andre Franke, Ruta Kwiatkowski, Stefan Schreiber, Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, D-24105 Kiel, Germany
Author contributions: Sventoraityte J and Zvirbliene A contributed equally to this work; Zvirbliene A, Kiudelis G and Kupcinskas L contributed human subject blood samples; Kupcinskas L, Zvirbliene A and Kwiatkowski R designed the research; Zvirbliene A and Sventoraityte J performed the research and analyzed the data; Sventoraityte J wrote the paper; Franke A and Kupcinskas L revised the manuscript; Schreiber S and Franke A co-ordinated and provided the financial support for this work.
Supported by The German Ministry of Education and Research through the National Genome Research Network
Correspondence to: Limas Kupcinskas, Professor, Department of Gastroenterology, Kaunas University of Medicine, A. Mickeviciaus Street 9, LT-44307 Kaunas, Lithuania. likup@takas.lt
Telephone: +370-37-326092 Fax: +370-37-326508
Received: September 25, 2009 Revised: November 14, 2009 Accepted: November 21, 2009 Published online: January 21, 2010
Abstract
AIM: To investigate the frequency of NOD2, IL23R and ATG16L1 genetic variants in a case-control panel for inflammatory bowel disease (IBD) from Lithuania.
METHODS: One hundred and eighty unrelated IBD patients [57 Crohn’s disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880).
RESULTS: The effect that carriership of at least one NOD2 risk allele predisposes to CD was replicated in the Lithuanian population (41.1% CD vs 16.9% controls, P = 2 × 10-4, OR = 3.48, 95% CI: 1.81-6.72). In the allelic single marker analysis, Leu1007insC was strongly associated with CD (21.4% CD vs 4.7% controls, P = 3.687 × 10-8, OR = 5.54, 95% CI: 2.85-10.75). Neither the other two NOD2 variants, nor the known variants in IL23R and ATG16L1 were found to be risk factors for CD, UC or IBD. However, our relatively small study population was underpowered to demonstrate such weak to moderate disease associations.
CONCLUSION: The results support a strong association between CD susceptibility and the Leu1007insC variant in NOD2 in the Lithuanian study population.
