The c.1-260C>T promoter variant of CD14 but not the c.896A>G (p.D299G) variant of toll-like receptor 4 (TLR4) genes is associated with inflammatory bowel disease
The c.1-260C>T promoter variant of CD14 but not the c.896A>G (p.D299G) variant of toll-like receptor 4 (TLR4) genes is associated with inflammatory bowel disease
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DOI：
10.1159/000112646
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发表时间：
2007-01-01
期刊：
影响因子：
3.2
通讯作者：
Dignass, Axel
中科院分区：
文献类型：
--
作者：
Baumgart, Daniel C.;Buening, Carsten;Dignass, Axel
背景资料：炎症性肠病（IBD）是由遗传易感宿主对固有肠道植物群的异常免疫应答引起的。因此，对参与宿主-病原体相互作用的候选基因的研究具有重要意义。研究方法：在这项德国和匈牙利的双中心回顾性队列研究中，克罗恩病（CD）患者（n = 379;德国n = 235，匈牙利n = 144）和溃疡性结肠炎（UC）（n = 263;德国n = 145，匈牙利n = 118）和健康对照组（n = 605;德国n = 403，匈牙利人n = 202）的CD 14 c.1- 260 C> T启动子变体和TLR 4 c.896A>G启动子变体的存在进行基因分型。（p.D299G）变体的融合曲线分析。根据NOD 2（CARD 15）突变的存在对数据进行分层，并进行详细的基因型-表型分析。结果如下：在德国队列中，CD 14单核苷酸多态性与UC相关，但与CD无关（UC p = 0.016 vs. CD p = 0.190），而在匈牙利队列中发现了相反的情况（UC p = 0.083 vs. CD p = 0.019）。在两个队列中均未发现IBD与TLR 4单核苷酸多态性相关（UC p = 0.430，CD p = 0.783 vs. UC p = 0.745，CD p = 0.383）。结论：IBD与CD 14 c表达有关。1- 260 C>T启动子在德国人和匈牙利人中的变异，但不与TLR 4 c. 896 A> G（p.D299G）变体。版权所有c 2007 S. Karger AG，巴塞尔。
Background: Inflammatory bowel disease ( IBD) results from an aberrant immune response to the indigenous intestinal flora in genetically susceptible hosts. Therefore, the study of candidate genes involved in host pathogen interactions is of key interest. Methods: In this two-center, retrospective German and Hungarian cohort study, patients with Crohn's disease ( CD) ( n = 379; German n = 235, Hungarian n = 144) and ulcerative colitis ( UC) ( n = 263; German n = 145, Hungarian n = 118) and healthy controls ( n = 605; German n = 403, Hungarian n = 202) were genotyped for the presence of the CD14 c.1-260C> T promoter variant and the TLR4 c.896A>G ( p. D299G) variant by melting curve analysis using fluorescence resonance energy transfer probes. Data were stratified according to the presence of NOD2 ( CARD15) mutations and a detailed genotype-phenotype analysis was performed. Results: In the German cohort the CD14 single-nucleotide polymorphism was associated with UC, but not CD ( UC p = 0.016 vs. CD p = 0.190), while the opposite was found in the Hungarian cohort ( UC p = 0.083 vs. CD p = 0.019). No association of IBD with the TLR4 single-nucleotide polymorphism was found in either cohort ( UC p = 0.430, CD p = 0.783 vs. UC p = 0.745, CD p = 0.383). Conclusion: IBD appears to be associated with the CD14 c. 1-260C>T promoter variant in Germans and Hungarians, but not with the TLR4 c. 896A > G ( p. D299G) variant. Copyright c 2007 S. Karger AG, Basel.