TY - JOUR
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.
N1 - Funding Information:
Acknowledgments This work is supported by a grant from the Philadelphia Health Care Trust (WAK), a Research Grant from the Barsumian Trust, Pennsylvania State University, College of Medicine (NJT), and a Research Fellowship from Alexander von Humboldt Foundation (ZL). The authors thank Rainer Vogler, Catharina Fuer-stenau, Birthe Fedders, Tanja Wesse, Tanja Henke, and Lena Bossen for help with SNPlex genotyping, Tony Lin for his assistance with RFLP genotyping, Kimberly Walker, John Hegarty, and Gaylene Webber for their help in manuscript preparation. The authors gratefully acknowledge the Gift of Life Donor Program (Philadelphia, PA) and the generosity of the organ donor families for allowing these organs that are not suitable for transplantation to be utilized to advance the understanding of human disease.
PY - 2010/3
Y1 - 2010/3
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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U2 - 10.1007/s10620-009-0782-8
DO - 10.1007/s10620-009-0782-8
M3 - Article
C2 - 19294505
AN - SCOPUS:77949311825
SN - 0163-2116
VL - 55
SP - 739
EP - 746
JO - Digestive Diseases and Sciences
JF - Digestive Diseases and Sciences
IS - 3
ER -