CARD8（TUCAN）基因c.30T>A（p.C10X）变异与克罗恩病无关联：一项针对3个独立欧洲队列的研究
No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: a study in 3 independent European cohorts.
作者信息
Büning Carsten, Schmidt Hartmut H-J, Molnár Tamás, Drenth Joost Ph, Fiedler Thomas, Gentz Enno, Todorov Theodor, Baumgart Daniel C, Sturm Andreas, Nagy Ferenc, Lonovics János, de Jong Dirk J, Landt Olfert, Kage Andreas, Nickel Renate, Büttner Janine, Lochs Herbert, Witt Heiko
机构信息
Department of Gastroenterology, Hepatology & Endocrinology, Charité, Campus Mitte, Universitätsmedizin Berlin, Germany.
出版信息
Inflamm Bowel Dis. 2008 Mar;14(3):332-7. doi: 10.1002/ibd.20337.
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.
背景
最近一项研究报告称，CARD8（TUCAN）基因中的c.30T>A（p.Cys10Ter；rs2043211）变异与克罗恩病（CD）相关。本研究的目的是分析来自德国、匈牙利和荷兰的3个独立欧洲炎症性肠病（IBD）队列中p.C10X的频率。
方法
我们纳入了一个由921名患者组成的欧洲IBD队列，并将p.C10X基因型频率与832名健康对照进行比较。分析的3个研究人群分别为：（1）德国[CD，n = 317；溃疡性结肠炎（UC），n = 180]，（2）匈牙利（CD，n = 149；UC，n = 119），以及（3）荷兰（CD，n = 156）。针对NOD2变异（p.Arg702Trp、p.Gly908Arg、c.3020insC）和临床特征进行了亚型分析。纳入了种族匹配的对照（德国，n = 413；匈牙利，n = 202；荷兰，n = 217）。
结果
在所有3个队列中，我们观察到CD患者和UC患者的p.C10X基因型频率与对照相比均无显著差异。与最初的关联研究相反，我们发现荷兰CD患者中提示性风险野生型的频率与对照相比有降低趋势（P = 0.14）。我们既未发现p.C10X与NOD2之间存在基因相互作用的证据，也未发现C10X变异与CD或UC表型相关。
结论
通过分析3个独立的欧洲IBD队列，我们没有发现证据表明CARD8中的C10X变异会导致CD易感性。
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