A polymorphism in the CD14 gene is associated with Crohn disease

A polymorphism in the CD14 gene is associated with Crohn disease
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DOI:
10.1080/003655202753416867
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发表时间:
2002-02-01
影响因子:
1.9
通讯作者:
Epplen, JT
Epplen, JT
中科院分区:
医学4区
文献类型:
--
作者:
Klein, W;Tromm, A;Epplen, JT

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背景:炎症性肠病(IBD)是一种多因素疾病,其特征是未能限制对管腔抗原的炎症反应。虽然遗传因素在发病机制中起着重要作用,但人们对其相关基因知之甚少。肠道细菌的免疫反应在IBD的发病机制中起着至关重要的作用。方法:采用RFLP方法对219例克罗恩病(CD)、142例溃疡性结肠炎(UC)和410例健康对照的CD14基因启动子区-159位T/C功能相关多态性进行检测,以探讨CD14基因在IBD发病中的作用。结果:CD组T等位基因和TT等位基因频率明显高于对照组(P-c分别为0.044和0.005)。结论:对内毒素的免疫应答改变似乎在CD的遗传易感性中起作用,而对UC的遗传易感性没有影响。
Background: Inflammatory bowel diseases (IBD) are multifactorial disorders, characterized by failure to limit the inflammatory response to luminal antigens. Although genetic factors play an important role in the pathogenesis, little is known about the genes accountable. Immune response to intestinal bacteria seems to be crucial in the pathogenesis of IBD. Methods: To evaluate the role of the CD14 gene in IBD, a functionally relevant polymorphism in the promoter region (T/C at position - 159) has been genotyped in 219 patients with Crohn disease (CD), 142 patients with ulcerative colitis (UC) and 410 healthy controls by RFLP analysis. Results: T allele and TT genotype frequencies were found increased in CD patients compared to controls (P-c=0.044 and 0.005, respectively). Conclusion: An altered immune response to LPS seems to play a role in the genetic predisposition to CD but not to UC.