Büning C, Schmidt H H-J, Molnar T, De Jong D J, Fiedler T, Bühner S, Sturm A, Baumgart D C, Nagy F, Lonovics J, Drenth J P H, Landt O, Nickel R, Büttner J, Lochs H, Witt H
Department of Gastroenterology, Hepatology and Endocrinology, Charité, Campus Mitte, Universitätsmedizin Berlin, Berlin, Germany.
Aliment Pharmacol Ther. 2007 Oct 1;26(7):1025-33. doi: 10.1111/j.1365-2036.2007.03446.x.
A recent study reported that a non-synonymous single nucleotide polymorphism (rs11209026, p.Arg381Gln) located in the IL23R gene is a protective marker for inflammatory bowel disease.
To analyse the frequency of p.Arg381Gln in three independent European inflammatory bowel disease cohorts and to evaluate how this variant influences disease behaviour.
We assessed a European cohort of 919 inflammatory bowel disease patients and compared the IL23R p.Arg381Gln genotype frequency with 845 healthy controls. Inflammatory bowel disease patients originated from Germany [Crohn's disease (CD): n = 318; ulcerative colitis (UC): n = 178], Hungary (CD: n = 148; UC: n = 118) and the Netherlands (CD: n = 157). Ethnically matched controls were included. We performed subtyping analysis in respect to CARD15 alterations and clinical characteristics.
The frequency of the glutamine allele of p.Arg381Gln was significantly lower in inflammatory bowel disease patients compared with controls in a pooled analysis of all three cohorts (P < 0.000001) as well as in the individual cohorts (Germany: P = 0.001, Hungary: P = 0.02 and the Netherlands: P = 0.0002). The p.Arg381Gln genotype distribution was similar between CD and UC. We did not observe either statistical interactions between p.Arg381Gln and CARD15 variants or any significant associations between p.Arg381Gln genotype and subphenotypes.
The p.Arg381Gln IL23R variant confers a protective effect against both CD and UC, but does not determine disease phenotype.
最近一项研究报告称，白细胞介素23受体（IL23R）基因中的一个非同义单核苷酸多态性（rs11209026，p.Arg381Gln）是炎症性肠病的一个保护标志物。
分析三个独立的欧洲炎症性肠病队列中p.Arg381Gln的频率，并评估该变体如何影响疾病行为。
我们评估了一个由919名炎症性肠病患者组成的欧洲队列，并将IL23R p.Arg381Gln基因型频率与845名健康对照进行比较。炎症性肠病患者来自德国[克罗恩病（CD）：n = 318；溃疡性结肠炎（UC）：n = 178]、匈牙利（CD：n = 148；UC：n = 118）和荷兰（CD：n = 157）。纳入了种族匹配的对照。我们针对CARD15改变和临床特征进行了亚型分析。
在所有三个队列的汇总分析中（P < 0.000001）以及在各个队列中（德国：P = 0.001，匈牙利：P = 0.02，荷兰：P = 0.0002），炎症性肠病患者中p.Arg381Gln的谷氨酰胺等位基因频率显著低于对照。CD和UC之间的p.Arg381Gln基因型分布相似。我们未观察到p.Arg381Gln与CARD15变体之间的统计学相互作用，也未观察到p.Arg381Gln基因型与亚表型之间的任何显著关联。
p.Arg381Gln IL23R变体对CD和UC均具有保护作用，但不决定疾病表型。
