Toll-like receptor 4 (TLR4) gene polymorphisms in celiac disease
Toll-like receptor 4 (TLR4) gene polymorphisms in celiac disease
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DOI：
10.1111/j.1399-0039.2007.00945.x
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发表时间：
2007-12-01
期刊：
影响因子：
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通讯作者：
Bilbao, J. R.
中科院分区：
文献类型：
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作者：
Santin, I.;Castellanos-Rubio, A.;Bilbao, J. R.
toll样受体（TLRs）通过抗原模式识别参与免疫防御的第一道防线，配体包括外源性和宿主来源的分子。TLR4的编码变异与溃疡性结肠炎、克罗恩病和类风湿性关节炎等自身免疫性疾病有关。我们的目的是确定这些多态性是否与乳糜泻（CD）有关。TLR4的两个编码单核苷酸多态性（Asp299Gly和Thr399Ile）在95个CD三家族、186名患者和186名无关对照中进行了基因分型。患者与对照组之间的等位基因、基因型或单倍型分布或传播均无差异。我们的结果不支持这些TLR4变异与CD的关联。
Toll-like receptors (TLRs) participate in the first line of immune defense through antigen pattern recognition, and ligands include exogenous and host-derived molecules. Coding variants in TLR4 have been associated with autoimmune diseases like ulcerative colitis, Crohn's disease, and rheumatoid arthritis. Our aim was to determine whether these polymorphisms are associated with celiac disease (CD). Two coding single nucleotide polymorphisms of TLR4 (Asp299Gly and Thr399Ile) were genotyped in 95 family trios with CD as well as in 186 patients and 186 unrelated controls. There were no differences in allele, genotype or haplotype distribution, or transmission between patient and control groups. Our results do not support association of these TLR4 variants with CD.