No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: A study in 3 independent European cohorts

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http://www3.interscience.wiley.com/cgi-bin/abstract/117868129/ABSTRACT?CRETRY=1 & SRETRY=0

Original Article

No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: A study in 3 independent European cohorts

Carsten Büning, MD 1 *, Hartmut H.-J. Schmidt, MD 2, Tamás Molnár, MD 3, Joost PH Drenth, MD 4, Fiedler, MD 1, Enno Gentz, MD 1, Theodor Todorov, PhD 1, C. Baumgart, MD 5, s Sturm, MD 5, Ferenc Nagy, MD 3, János Lonovics, MD 3, Dirk J. de Jong, MD 4, Olfert Landt, PhD 6, s Kage, MD 7, Renate Nickel, MD 8, Janine Büttner, PhD 1, Herbert Lochs, MD 1, Heiko Witt, MD 5

1Department of Gastroenterology, Hepatology & Endocrinology, Charité, Campus Mitte, Universitätsmedizin Berlin, Germany2Hepatology and Transplantation Medicine, Universitätsklinikum Münster, Germany31st Department of Medicine, Faculty of Medicine, University of Szeged, Hungary4Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, the Netherlands5Department of Gastroenterology and Hepatology, Charité, Campus Virchow, Universitätsmedizin Berlin, Germany6TIB MOLBIOL, Berlin, Germany7Institute of Laboratory Medicine, Charité, Campus Virchow, Universitätsmedizin Berlin, Germany8Department of Pediatric Pneumonology and Immunology, Charitè, Campus Virchow, Universitätsmedizin Berlin, Germany

email: Carsten Büning (carsten.buening@...)

*Correspondence to Carsten Büning, Department of Gastroenterology, Hepatology & Endocrinology, Charité, Universitätsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10117 Berlin, Germany

Funded by: Eli and Edythe Broad Foundation German Ministry for Education and Research (BMBF) - Competence Network Inflammatory Bowel Disease; Grant Number: 01GI0284 TP 1.17 Forschungsförderung of the Charité, Universitätsmedizin Berlin

Keywords

Crohn's disease • ulcerative colitis • inflammatory bowel disease • CARD8 • TUCAN

Abstract

Background: A recent study reported that the c.30T>A (p.Cys10Ter; rs2043211) variant, in the CARD8 (TUCAN) gene, is associated with Crohn's disease (CD). The aim of this study was to analyze the frequency of p.C10X in 3 independent European (IBD) cohorts from Germany, Hungary, and the Netherlands.

Methods: We included a European IBD cohort of 921 patients and compared the p.C10X genotype frequency to 832 healthy controls. The 3 study populations analyzed were: (1) Germany [CD, n = 317; ulcerative colitis (UC), n = 180], (2) Hungary (CD, n = 149; UC, n = 119), and (3) the Netherlands (CD, n = 156). Subtyping analysis was performed in respect to NOD2 variants (p.Arg702Trp, p.Gly908Arg, c.3020insC) and to clinical characteristics. Ethnically matched controls were included (German, n = 413; Hungarian, n = 202; Dutch, n = 217).

Results: We observed no significant difference in p.C10X genotype frequency in either patients with CD or patients with UC compared with controls in all 3 cohorts. Conversely to the initial association study, we found a trend toward lower frequencies of the suggestive risk wild type in CD from the Netherlands compared with controls (P = 0.14). We found neither evidence for genetic interactions between p.C10X and NOD2 nor the C10X variant to be associated with a CD or UC phenotype.

Conclusions: Analyzing 3 independent European IBD cohorts, we found no evidence that the C10X variant in CARD8 confers susceptibility for CD.

(Inflamm Bowel Dis 2007, Volume 14, Issue 3 , Pages 332 - 337)

Received: 14 March 2007; Accepted: 10 October 2007

Digital Object Identifier (DOI)10.1002/ibd.20337