CD14基因的c.1-260C>T启动子变异而非Toll样受体4（TLR4）基因的c.896A>G（p.D299G）变异与炎症性肠病相关。
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.
作者信息
Baumgart Daniel C, Buning Carsten, Geerdts Lars, Schmidt Hartmut H, Genschel Janine, Fiedler Thomas, Gentz Enno, Molnar Tomas, Nagy Ferenc, Lonovics Janos, Lochs Herbert, Wiedenmann Bertram, Nickel Renate, Witt Heiko, Dignass Axel
机构信息
Division of Gastroenterology and Hepatology, Department of Medicine, Charité Medical School, Humboldt University of Berlin, Berlin, Germany.
出版信息
Digestion. 2007;76(3-4):196-202. doi: 10.1159/000112646. Epub 2007 Dec 21.
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.
背景
炎症性肠病（IBD）是由遗传易感宿主对肠道内固有菌群的异常免疫反应引起的。因此，对参与宿主与病原体相互作用的候选基因进行研究具有关键意义。
方法
在这项德国和匈牙利的双中心回顾性队列研究中，对克罗恩病（CD）患者（n = 379；德国患者n = 235，匈牙利患者n = 144）、溃疡性结肠炎（UC）患者（n = 263；德国患者n = 145，匈牙利患者n = 118）以及健康对照者（n = 605；德国对照者n = 403，匈牙利对照者n = 202）进行基因分型，通过使用荧光共振能量转移探针的熔解曲线分析来检测CD14基因c.1-260C>T启动子变体和TLR4基因c.896A>G（p.D299G）变体的存在情况。数据根据NOD2（CARD15）突变的存在情况进行分层，并进行详细的基因型-表型分析。
结果
在德国队列中，CD14单核苷酸多态性与UC相关，但与CD无关（UC p = 0.016，CD p = 0.190），而在匈牙利队列中则相反（UC p =
0.083，CD p = 0.019）。在两个队列中均未发现IBD与TLR4单核苷酸多态性有关（UC p =
0.430，CD p = 0.783；UC p = 0.745，CD p = 0.383）。
结论
在德国人和匈牙利人中，IBD似乎与CD14基因c.1-260C>T启动子变体相关，但与TLR4基因c.896A>G（p.D299G）变体无关。
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