title: NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease.
abstract: OBJECTIVE
  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 x 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 x 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.
  
  
  CONCLUSIONS
  The results support a strong association between CD susceptibility and the Leu1007insC variant in NOD2 in the Lithuanian study population.
authors.affiliation: Department of Gastroenterology, Kaunas University of Medicine, A. Mickeviciaus Street 9, LT-44307 Kaunas, Lithuania.
authors.forename: Jurgita
authors.initials: J
authors.lastname: Sventoraityte
authors.forename: Aida
authors.initials: A
authors.lastname: Zvirbliene
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
authors.forename: Ruta
authors.initials: R
authors.lastname: Kwiatkowski
authors.forename: Gediminas
authors.initials: G
authors.lastname: Kiudelis
authors.forename: Limas
authors.initials: L
authors.lastname: Kupcinskas
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
mesh_terms: D000328:Adult; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000208:ethnology / Q000235:genetics; D003424:Crohn Disease / Q000208:ethnology / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000208:ethnology* / Q000235:genetics*; D008097:Lithuania; D008297:Male; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018123:Receptors, Interleukin / Q000235:genetics*
chemical_list: C518959:ATG16L1 protein, human; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; C515500:IL23R protein, human; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D018123:Receptors, Interleukin