Genotype-phenotype analysis of the CXCL16 p.Ala181Val polymorphism in inflammatory bowel disease

Julia Seiderer, Julia Dambacher, Dorothea Leistner, Cornelia Tillack, Jürgen Glas, Jan Hendrik Niess, Simone Pfennig, Matthias Jürgens, Bertram Müller-Myhsok, Burkhard Göke, Thomas Ochsenkühn, Peter Lohse, Hans Christian Reinecker, Stephan Brand

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)49-55
Number of pages7
JournalClinical Immunology
Issue number1
StatePublished - Apr 2008
Externally publishedYes


  • CARD15
  • CXCL16
  • CXCR6
  • Chemokine
  • Crohn's disease
  • Genetics
  • Inflammatory bowel disease
  • Intestinal inflammation
  • Polymorphism
  • Ulcerative colitis

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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