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

被引：20

作者：

Buening, Carsten ^{[1
]}

Schmidt, Hartmut H. -J. ^{[2
]}

Molnar, Tamas ^{[3
]}

Drenth, Joost P. H. ^{[4
]}

Fiedler, Thomas ^{[1
]}

Gentz, Enno ^{[1
]}

Todorov, Theodor ^{[1
]}

Baumgart, Daniel C. ^{[5
]}

Sturm, Andreas ^{[5
]}

Nagy, Ferenc ^{[3
]}

Lonovics, Janos ^{[3
]}

de Jong, Dirk J. ^{[4
]}

Landt, Olfert ^{[6
]}

Kage, Andreas ^{[7
]}

Nickel, Renate ^{[2
,8
]}

Buettner, Janine ^{[1
]}

Lochs, Herbert ^{[1
]}

Witt, Heiko ^{[5
]}

机构：

[1] Charite Univ Med Berlin, Dept Gastroenterol Hematol & Endocrinol, D-10117 Berlin, Germany

[2] Univ Klinikum Munster, Munster, Germany

[3] Univ Szeged, Fac Med, Dept Med 1, Szeged, Hungary

[4] Radboud Univ Nijmegen, Med Ctr, Div Gastroenterol & Hepatol, Dept Med, Nijmegen, Netherlands

[5] Univ Med Berlin, Dept Gastroenterol & Hepatol, Charite Campus Virchow, Berlin, Germany

[6] TIB MOLBIOL, Berlin, Germany

[7] Univ Med berlin, Inst Lab Med, Charite Campus Virchow, Berlin, Germany

[8] Univ Med berlin, Dept Pediat Pneumonol, Charite Campus Virchow, Berlin, Germany

来源：

INFLAMMATORY BOWEL DISEASES | 2008年 / 14卷 / 03期

关键词：

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

D O I：

10.1002/ibd.20337

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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 = 1801, (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.

引用

页码：332 / 337

页数：6

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

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