Toll样受体4基因-299位点A/G多态性与溃疡性结肠炎及大肠腺癌的关系

目的:研究Toll样受体4(ToLL like receptor 4,TLR4)基因-299位点A/G多态性在中国浙江汉族人群中的分布,探讨其与溃疡性结肠炎(ulcerative colitis,UC)及大肠腺癌的相关性,旨在阐明疾病的遗传易感性。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RELP)方法,检测68例UC患者,114例大肠腺癌(46例结肠癌,68例直肠癌)与152例正常对照TLR4基因Asp299Gly基因型及等位基因分布,并分析该基因多态性与UC及大肠腺癌之间的关系。结果:(1)在UC组、大肠腺癌组和正常对照组中均未发现TLR4基因Asp299Gly位点的突变,其基因型频率及等位基因频率及携带者频率总体分布无显著性差异。(2)中国汉族人与日本人均未发现TLR4基因Asp299Gly位点的突变,且等位基因频率及基因型频率的分布无明显差异,而与荷兰人(8.93%)、德国人(5.6%)、英国人(6.23%)的突变频率相比存在明显差异性。亚洲人该等位基因频率及基因型频率分布较欧洲白种人显著减低。结论:TLR4基因Asp299Gly多态性与中国汉族人UC及大肠腺癌的遗传易感性无关,该等位基因频率及基因型频率在不同种族人群中的分布有显著性差异。

The association between Toll-like receptor-4 gene Asp299Gly polymorphism and ulcerative colitis and colorectal adenocarcinoma

Aims:We genotyped the polymorphism of Toll-like receptor-4(TLR4)to study the distribution of TLR4 gene Asp299Gly polymorphism and to define whether mutation of TLR4 gene was involved in ulcerative colitis(UC)and colorectal adenocarcinoma in Chinese population with Han nationality in Zhejiang Province.Methods:Sixty-eight patients with UC,114 patients with colorectal adenocarcinoma(46 patients with colon cancer,68 patients with rectal cancer)and 152 healthy controls were genotyped for TLR4 gene Asp299Gly polymorphism by polymerase chain reaction-restricted fragment length polymorphism(PCR-RELP).Results:(1)No mutation of TLR4 gene Asp299Gly allele was detected in all 334 DNA samples.The distributions of the genotype and allele frequencies of three groups had no significant differences.(2)Comparing the genotype and allele frequencies of the TLR4 gene Asp299Gly polymorphism,the distributions of the TLR4 gene Asp299Gly polymorphism were quite different between Asia and westen populations.Conclusion:the polymorphism of TLR4 gene Asp299Gly is not associated with UC and colorectal adenocarcinoma in Chinese population with Han nationality.The distributions of the genotype and allele frequencies among different populations have significant differences.