白细胞介素-27的基因多态性与大肠癌的遗传易感性之间的相关性研究

目的探讨白细胞介素-27(IL-27)基因单核苷酸多态性及其单倍型与大肠癌易感性之间的关系。方法以170例大肠癌患者和160例健康对照者为研究对象,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法对IL-27基因-964A/G、2905T/G单核苷酸多态性进行基因分型,同时用SHEsis软件分析IL-27基因的连锁不平衡及单倍型频率。结果 IL-27基因2905T/G多态性在大肠癌组和对照组的分布差异无统计学意义(P>0.05),而IL-27基因-964A/G多态性在两组人群中的分布差异有统计学意义(P<0.05),等位基因频率的相对风险分析发现,-964G等位基因携带者患大肠癌的风险是A等位基因的1.640倍(OR=1.640,95%CI:1.194～2.251)。联合基因型分析发现,IL-27基因-964A/G、2905T/G单核苷酸多态性存在着强烈的连锁不平衡(|D′|=0.937),-964G/2905G单倍型频率在大肠癌组中显著高于对照组(P<0.05)。-964G/2905G单倍型携带者显著增加了大肠癌的发病风险(OR=2.100,95%CI:1.176～3.749)。结论 IL-27基因-964A/G多态性和-964G/2905G单倍型与大肠癌的发病具有相关性,其中-964G等位基因可能是大肠癌的遗传易感基因。

Association of interleukin-27 gene polymorphism with genetic susceptibility to colorectal cancer

Objective To investigate the single nucleotide polymorphisms(SNPs) and its haplotypes of interleukin-27(IL-27) gene are associated with susceptibility to colorectal cancer(CRC) in a Chinese population.Methods We analyzed two single nucleotide polymorphisms of IL-27 gene promoter-964 A/G and 2905 T/G in 170 patients with CRC and 160 age and sex matched controls in a Chinese population,using a polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) strategy,Frequency of haplotypes and linkage disequilibrium of IL-27 gene in different groups were analyzed by SHEsis programs.Results The distributions of IL-27 gene 2905 T/G polymorphism was not different between CRC and control group,but the IL-27 gene-964 A/G polymorphism was significantly different(P<0.05).The relative risk suffered from CRC of G allele was 1.640 times of the A allele carriers(OR=1.640,95%CI:1.194～2.251).Consistent with the results of the genotyping analyses,IL-27-964 A/G and 2905 T/G polymorphisms showed strong linkage disequilibrium(|D′|= 0.937),frequency of the-964 G /2905 G haplotype in patients with CRC was significant higher than that in controls(P<0.05).The-964 G /2905 G haplotype was associated with a significantly increased risk of CRC(OR=2.100,95%CI:1.176～3.749).Conclusion IL-27 gene-964 A/G polymorphism and its-964 G /2905 G haplotype are associate with CRC,-964 G allele is an important genetic susceptibility gene for CRC.