Klein W, Tromm A, Griga T, Folwaczny C, Hocke M, Eitner K, Marx M, Duerig N, Epplen J T
Abteilung für Humangenetik, Ruhr-Universität, Bochum, Germany.
Scand J Gastroenterol. 2003 Aug;38(8):834-6. doi: 10.1080/00365520310003147.
Associations of variations in the CARD15 gene (Arg702Trp, Gly908Arg and Leu1007fsinsC) and Crohn disease (CD) have been shown recently. These variations are neither necessary nor sufficient for the genetic predisposition of CD. Further genetic and environmental factors play a crucial role in the pathogenesis of CD.
To evaluate putative interactions between the CARD15 and CD14 genes in CD, a functionally relevant polymorphism in the promoter region (T/C at position -159) has been genotyped for 650 healthy controls and 253 patients with CD by RFLP analyses. CD patients were genotyped for the variations of the CARD15 gene.
T allele and TT genotype frequencies of the CD14 promoter were significantly increased only in CD patients with at least one variation in the CARD15 gene compared to controls (P = 0.02 and 0.0002, respectively). No significant association was found in CD patients without any of the variations.
Interactions of the CARD15 and CD14 genes, both of which are involved in the recognition of lipopolysaccharides, increase the risk for developing CD.
最近已表明CARD15基因变异（Arg702Trp、Gly908Arg和Leu1007fsinsC）与克罗恩病（CD）之间存在关联。这些变异对于CD的遗传易感性既非必要条件也非充分条件。其他遗传和环境因素在CD的发病机制中起关键作用。
为评估CARD15和CD14基因在CD中可能存在的相互作用，通过限制性片段长度多态性分析（RFLP）对650名健康对照者和253名CD患者的启动子区域（-159位的T/C）进行了基因分型。对CD患者的CARD15基因变异进行了基因分型。
与对照组相比，仅在至少有一个CARD15基因变异的CD患者中，CD14启动子的T等位基因和TT基因型频率显著增加（分别为P = 0.02和0.0002）。在没有任何变异的CD患者中未发现显著关联。
CARD15和CD14基因均参与脂多糖的识别，二者相互作用会增加患CD的风险。
