@article{895a8df650ed45e98ac6909205619229,
title = "Genotype-phenotype analysis of the CXCL16 p.Ala181Val polymorphism in inflammatory bowel disease",
abstract = "To identify if genetic determinants of CXCL16 modulate the susceptibility and phenotype of inflammatory bowel diseases (IBD), we analyzed genomic DNA from 574 individuals (365 IBD patients, 209 healthy controls) for the CXCL16 p.Ala181Val polymorphism. In this study, we demonstrate that in Crohn's disease (CD), the CXCL16 p.Ala181Val polymorphism is not a disease susceptibility gene but associated with younger age at disease onset (p =0.016) and higher frequency of ileal involvement (p =0.024; OR 2.17; 95% CI 1.12-4.21) in ValVal carriers compared to a higher frequency of colonic involvement in AlaAla carriers (p = 0.009; OR 2.60; CI 1.29-5.25). Carriers of at least one Val allele and one CARD15/NOD2 variant had a higher incidence of a stricturing and penetrating phenotype (p = 0.030, OR 4.04, CI 1.27-12.84) and of stenoses (p = 0.014; OR 3.97; CI 1.38-11.40) than patients carrying NOD2 variants only, suggesting that this polymorphism contributes to a severe disease phenotype in CD.",
keywords = "CARD15, CXCL16, CXCR6, Chemokine, Crohn's disease, Genetics, Inflammatory bowel disease, Intestinal inflammation, Polymorphism, Ulcerative colitis",
author = "Julia Seiderer and Julia Dambacher and Dorothea Leistner and Cornelia Tillack and J{\"u}rgen Glas and Niess, {Jan Hendrik} and Simone Pfennig and Matthias J{\"u}rgens and Bertram M{\"u}ller-Myhsok and Burkhard G{\"o}ke and Thomas Ochsenk{\"u}hn and Peter Lohse and Reinecker, {Hans Christian} and Stephan Brand",
note = "Funding Information: We would like to thank F. Schnitzler, P. Lohse, H. Ruebsamen and G. Simon for their help in performing the DNA sequence analyses. This work has been presented as oral presentation at the Digestive Disease Week in Washington, DC, May 19–24, 2007 and the abstract has been published in Gastroenterology. Additional parts were presented at the 13th International Congress of Mucosal Immunology in Tokyo, Japan, July 9–12, 2007. This work contains parts of the unpublished degree theses of D. Leistner and J. Dambacher. J. Seiderer was supported by grants from the University of Munich (F{\"o}FoLe Nr 422; Habilitationsstipendium), J. Dambacher received a grant from the University of Munich (Promotionsstipendium). H.C. Reinecker was supported by NIH/NIDDK grants R01 DK068181 and P01 DK003506 and a Senior Research Award from the Crohn{\textquoteright}s and Colitis Foundation of America (CCFA). J.-H. Niess received grants from the CCFA and the Deutsche Forschungsgemeinschaft (Ni 575/4-1). S. Brand was supported by grants from the Deutsche Forschungsgemeinschaft (Br 1912/2-1 and 1912/5-1), the Else Kr{\"o}ner-Fresenius-Stiftung (Else Kr{\"o}ner Memorial Grant 2005, P50/05/EKMS05/62) and the Ludwig-Demling grant 2007 by DCCV e.V.",
year = "2008",
month = apr,
doi = "10.1016/j.clim.2007.11.016",
language = "English (US)",
volume = "127",
pages = "49--55",
journal = "Clinical Immunology",
issn = "1521-6616",
publisher = "Academic Press Inc.",
number = "1",
}