NOD2,IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease

查看全文 作　　者：Jurgita [1]Sventoraityte;Aida [1]Zvirbliene;Andre [2]Franke;Ruta [2]Kwiatkowski;Gediminas [1]Kiudelis;Limas [1]Kupcinskas;Stefan [2]Schreiber 机构地区：[1]Department of Gastroenterology,Kaunas University of Medicine;[2]Institute for Clinical Molecular Biology,Christian-Albrechts-University Kiel 出　　处：《World Journal of Gastroenterology》索引2010年第16卷第3期,共6页 基　　金：Supported by The German Ministry of Education and Research through the National Genome Research Network 摘　　要：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 pa- tients [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. 关 键 词：NOD2 IL23R ATG16L1 Single nucleotide polymorphisms Crohn’s disease Ulcerative colitis Lithuania