Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women

Zhenwu Lin, Lisa Poritz, Andre Franke, Tong Yi Li, Andreas Ruether, Kathryn A. Byrnes, Yunhua Wang, Anthony W. Gebhard, Colin MacNeill, Neal J. Thomas, Stefan Schreiber, Walter A. Koltun

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Abstract

Purpose 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. Conclusion 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.

Original languageEnglish (US)
Pages (from-to)739-746
Number of pages8
JournalDigestive Diseases and Sciences
Volume55
Issue number3
DOIs
StatePublished - Mar 1 2010

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Ulcerative Colitis
Inflammatory Bowel Diseases
Crohn Disease
Population

All Science Journal Classification (ASJC) codes

  • Physiology
  • Gastroenterology

Cite this

Lin, Zhenwu ; Poritz, Lisa ; Franke, Andre ; Li, Tong Yi ; Ruether, Andreas ; Byrnes, Kathryn A. ; Wang, Yunhua ; Gebhard, Anthony W. ; MacNeill, Colin ; Thomas, Neal J. ; Schreiber, Stefan ; Koltun, Walter A. / Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women. In: Digestive Diseases and Sciences. 2010 ; Vol. 55, No. 3. pp. 739-746.
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abstract = "Purpose 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. Conclusion 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.",
author = "Zhenwu Lin and Lisa Poritz and Andre Franke and Li, {Tong Yi} and Andreas Ruether and Byrnes, {Kathryn A.} and Yunhua Wang and Gebhard, {Anthony W.} and Colin MacNeill and Thomas, {Neal J.} and Stefan Schreiber and Koltun, {Walter A.}",
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Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women. / Lin, Zhenwu; Poritz, Lisa; Franke, Andre; Li, Tong Yi; Ruether, Andreas; Byrnes, Kathryn A.; Wang, Yunhua; Gebhard, Anthony W.; MacNeill, Colin; Thomas, Neal J.; Schreiber, Stefan; Koltun, Walter A.

In: Digestive Diseases and Sciences, Vol. 55, No. 3, 01.03.2010, p. 739-746.

Research output: Contribution to journalArticle

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T1 - Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women

AU - Lin, Zhenwu

AU - Poritz, Lisa

AU - Franke, Andre

AU - Li, Tong Yi

AU - Ruether, Andreas

AU - Byrnes, Kathryn A.

AU - Wang, Yunhua

AU - Gebhard, Anthony W.

AU - MacNeill, Colin

AU - Thomas, Neal J.

AU - Schreiber, Stefan

AU - Koltun, Walter A.

PY - 2010/3/1

Y1 - 2010/3/1

N2 - Purpose 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. Conclusion 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.

AB - Purpose 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. Conclusion 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.

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