University "La Sapienza", Rome, Italy.
Dig Liver Dis. 2010 Mar;42(3):179-84. doi: 10.1016/j.dld.2009.06.016. Epub 2009 Jul 29.
Several studies have tried to find possible associations between genetic polymorphisms and inflammatory bowel disease prevalence and/or phenotype. Our objectives were to test the frequency and phenotypic association of two polymorphisms of the interleukin-1 pathway, IL-1beta-511 and IL-1RN*2, in inflammatory bowel disease patients and controls from an Italian population, and to compare our data with previously published similar studies in Europe.
We screened 290 inflammatory bowel disease patients (178 ulcerative colitis and 112 Crohn's disease) and 106 controls for IL-1beta-511 and IL-1RN2 polymorphisms by polymerase chain reaction (PCR)-based methods. The prevalence of the IL-1beta-511 and IL-1RN2 polymorphisms in European inflammatory bowel disease patients was calculated by a meta-analysis of previously published studies using the Mantel-Haenszel method.
No correlation between the IL-1 polymorphisms and inflammatory bowel disease prevalence was found in our study population. Crohn's disease patients with the IL-1beta-511 mutation had a higher rate of complicated disease. A trend for an association between the IL-1RN*2 mutation and a higher risk for inflammatory bowel disease has been found only in studies with Northern European populations.
The IL-1beta-511 mutation can be associated with complex disease behaviour in Italian Crohn's disease patients. The IL-1RN*2 mutation may play a role in Northern European people with inflammatory bowel disease.
多项研究试图寻找基因多态性与炎症性肠病(IBD)的患病率和/或表型之间的可能关联。我们的目的是检测白细胞介素-1(IL-1)通路中两个多态性(IL-1β-511 和 IL-1RN*2)在意大利人群中 IBD 患者和对照中的频率和表型关联,并将我们的数据与欧洲先前发表的类似研究进行比较。
我们通过聚合酶链反应(PCR)-基于方法筛选了 290 例 IBD 患者(178 例溃疡性结肠炎和 112 例克罗恩病)和 106 例对照,以检测 IL-1β-511 和 IL-1RN2 多态性。使用 Mantel-Haenszel 方法对先前发表的研究进行荟萃分析,计算了欧洲 IBD 患者中 IL-1β-511 和 IL-1RN2 多态性的患病率。
在我们的研究人群中,IL-1 多态性与 IBD 患病率之间没有相关性。携带 IL-1β-511 突变的克罗恩病患者具有更高的复杂疾病发生率。仅在北欧人群的研究中发现了 IL-1RN*2 突变与 IBD 风险增加之间的关联趋势。
IL-1β-511 突变可能与意大利克罗恩病患者的复杂疾病行为有关。IL-1RN*2 突变可能在北欧人群的 IBD 中起作用。