Discipline of Nutrition, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, 1142, New Zealand.
Gastroenterol Res Pract. 2010;2010:539461. doi: 10.1155/2010/539461. Epub 2010 Dec 27.
DNA samples from 339 Crohn's disease (CD) and 407 randomly selected controls from the Auckland (New Zealand) IBD project, were genotyped for five common single nucleotide polymorphisms in IL-23R (rs11805303, rs7517847, rs1343151, rs11209026, and rs10889677) and two in IL-12B (rs1363670 and rs6887695). While the IL-12B variants did not show an overall association and other IL23R variants led to minor changes in the risk of CD, rs1343151 and/or rs7517847 variants in the IL-23R gene strongly reduced the risk of developing CD at both allelic and genotype levels. A significantly decreased risk of first diagnosis of childhood CD was observed in individuals carrying the A allele of rs1343151, or between 17-40 y in individuals carrying the G allele in rs7517847 of IL-23R. A significantly decreased risk of ileocolonic or structuring disease was observed in individuals carrying the A allele in either rs11209026 or rs1343151, or the G allele in rs7517847 of IL-23R, and when such individuals did develop the disease, they were unlikely to require a bowel resection. Certain haplotypes very strongly modified risk. There was evidence for interactions of IL-23R variants with the NOD2 wild-type (d/d) genotype. Down-regulating the function of the IL-23R gene may decrease CD risk in the normal population.
从奥克兰（新西兰）IBD 项目中的 339 例克罗恩病（CD）患者和 407 名随机选择的对照者中提取 DNA 样本，对 IL-23R（rs11805303、rs7517847、rs1343151、rs11209026 和 rs10889677）中的 5 个常见单核苷酸多态性和 IL-12B（rs1363670 和 rs6887695）中的 2 个单核苷酸多态性进行基因分型。虽然 IL-12B 变体没有表现出总体关联，而其他 IL23R 变体导致 CD 风险的微小变化，但 IL-23R 基因中的 rs1343151 和/或 rs7517847 变体在等位基因和基因型水平上强烈降低了 CD 的发病风险。携带 rs1343151 的 A 等位基因的个体，或携带 rs7517847 的 G 等位基因的个体在 17-40 岁之间，其儿童 CD 的首次诊断风险显著降低。携带 rs11209026 或 rs1343151 中的 A 等位基因或 rs7517847 中的 G 等位基因的个体，或携带此类个体的回肠结肠炎或结构疾病的风险显著降低，当他们确实患上这种疾病时，他们不太可能需要进行肠切除术。某些单倍型强烈改变了风险。有证据表明 IL-23R 变体与 NOD2 野生型（d/d）基因型之间存在相互作用。下调 IL-23R 基因的功能可能会降低正常人群中 CD 的风险。
