Peters Kirsten E, O'Callaghan Nathan J, Cavanaugh Juleen A
John Curtin School of Medical Research, Australian National University, Woden, Australia.
Scand J Gastroenterol. 2005 Feb;40(2):194-7. doi: 10.1080/00365520510011506.
The inflammatory bowel diseases (IBDs), including Crohn's disease (CD) and ulcerative colitis (UC), are multifactorial diseases resulting from a complex interaction of genetic and environmental factors. The recently described CARD15 and TNF-alpha risk alleles are believed to be contributors to disease by disrupting inflammatory pathways via impaired response to bacteria. Other bacterial receptors, such as CD14, may also have a role in disease. A promoter polymorphism (-159C/T) in CD14 has been implicated in IBD in a number of studies.
We have analysed this CD14 promoter polymorphism in probands from 206 multiplex IBD families, 110 sporadic IBD individuals and 189 healthy controls from the Australian population, all of whom are Caucasian.
We could not replicate the described association between the CD14-159T allele and CD or UC, nor did we find any evidence for an interaction between the CARD15 or TNF-alpha risk alleles and the CD14-159T allele.
It is possible that the association seen in other studies may be due to population stratification or to the CD14 polymorphism being in linkage with the real disease-causing variant(s).
炎症性肠病（IBD），包括克罗恩病（CD）和溃疡性结肠炎（UC），是由遗传和环境因素复杂相互作用导致的多因素疾病。最近描述的CARD15和肿瘤坏死因子-α（TNF-α）风险等位基因被认为是通过对细菌反应受损破坏炎症途径从而导致疾病的因素。其他细菌受体，如CD14，可能在疾病中也起作用。多项研究表明，CD14中的一个启动子多态性（-159C/T）与IBD有关。
我们分析了来自206个IBD多发家庭的先证者、110名散发性IBD个体以及189名来自澳大利亚人群的健康对照者（均为白种人）的这种CD14启动子多态性。
我们无法重复所描述的CD14 - 159T等位基因与CD或UC之间的关联，也未发现CARD15或TNF-α风险等位基因与CD14 - 159T等位基因之间存在相互作用的任何证据。
其他研究中所见的关联可能是由于人群分层，或者是CD14多态性与真正的致病变异处于连锁状态。
