title: Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women.
abstract: OBJECTIVE
  To replicate the association of IL23R R381Q (rs11209026) with inflammatory bowel disease (IBD), examine the effect of the two nonsynonymous variations, Q3H and L310P, on IBD, and to study gender distribution of these variants in IBD patients.
  
  
  RESULTS
  IL23R R381Q was associated with Crohn's disease (CD) (P = 0.010), but not with ulcerative colitis (UC); L310P was associated with UC (P = 0.004), but not with CD; no association was observed for Q3H with CD or UC. A female-specific association of R381Q with CD (P = 0.041), and of L310P with UC (P = 0.008) was observed.
  
  
  CONCLUSIONS
  We replicated the association of IL23R R381Q with CD but not UC, and we observed an association of L310P with UC, but not CD, in a central Pennsylvania population. Further analysis of the distribution of IL23R variants revealed that these effects were largely female-specific. The results suggest that IL23R R381Q confers protection against CD and that L310P confers protection against UC in females.
authors.affiliation: Department of Surgery, College of Medicine, The Pennsylvania State University, Hershey, PA 17033, USA. zlin@psu.edu
authors.forename: Zhenwu
authors.initials: Z
authors.lastname: Lin
authors.forename: Lisa
authors.initials: L
authors.lastname: Poritz
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
authors.forename: Tong-Yi
authors.initials: TY
authors.lastname: Li
authors.forename: Andreas
authors.initials: A
authors.lastname: Ruether
authors.forename: Kathryn A
authors.initials: KA
authors.lastname: Byrnes
authors.forename: Yunhua
authors.initials: Y
authors.lastname: Wang
authors.forename: Anthony W
authors.initials: AW
authors.lastname: Gebhard
authors.forename: Colin
authors.initials: C
authors.lastname: MacNeill
authors.forename: Neal J
authors.initials: NJ
authors.lastname: Thomas
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
authors.forename: Walter A
authors.initials: WA
authors.lastname: Koltun
mesh_terms: D003093:Colitis, Ulcerative / Q000209:etiology; D003424:Crohn Disease / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008297:Male; D012737:Sex Factors