CAJ | 학술논문

目的探讨白介素-18(IL-18)基因单核苷酸多态性及其单倍型与结直肠癌易感性之间的关系.方法以170例结直肠癌患者和160名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-18基因-137G/C、-607C/A单核苷酸多态性进行基因分型,同时用SHEsis软件分析IL-18基因的连锁不平衡及单倍型频率.结果 IL-18基因-607C/A多态性在结直肠癌患者和健康人群中的分布差异无统计学意义(P＞0.05),而IL-18基因- 137G/C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显示,C等位基因携带者患结直肠癌的风险是G等位基因的1.814倍(OR=1.814,95％ CI:1.246～2.642).联合基因型分析显示,IL- 18基因- 137G/C、-607C/A单核苷酸多态性存在着强烈的连锁不平衡(｜D'|=0.945),- 137C/-607A单倍型频率在结直肠癌患者中显著高于健康人群(P＜0.05).-137C/-607A单倍型携带者显著增加了结直肠癌的发病风险(OR=1.637,95％CI:1.100～2.437).结论 IL-18基因- 137G/C多态性和-137C/-607A单倍型与结直肠癌的发病具有相关性,其中-137C等位基因可能是结直肠癌的遗传易感基因.
목적 탐토백개소-18(IL-18)기인단핵감산다태성급기단배형여결직장암역감성지간적관계.방법 이170례결직장암환자화160명건강대조자위연구대상,응용취합매련반응-한제성편단장도다태성(PCR-RFLP)적방법대IL-18기인-137G/C、-607C/A단핵감산다태성진행기인분형,동시용SHEsis연건분석IL-18기인적련쇄불평형급단배형빈솔.결과 IL-18기인-607C/A다태성재결직장암환자화건강인군중적분포차이무통계학의의(P＞0.05),이IL-18기인- 137G/C다태성재량조인군중적분포차이유통계학의의(P＜0 05).등위기인빈솔적상대풍험분석현시,C등위기인휴대자환결직장암적풍험시G등위기인적1.814배(OR=1.814,95％ CI:1.246～2.642).연합기인형분석현시,IL- 18기인- 137G/C、-607C/A단핵감산다태성존재착강렬적련쇄불평형(｜D'|=0.945),- 137C/-607A단배형빈솔재결직장암환자중현저고우건강인군(P＜0.05).-137C/-607A단배형휴대자현저증가료결직장암적발병풍험(OR=1.637,95％CI:1.100～2.437).결론 IL-18기인- 137G/C다태성화-137C/-607A단배형여결직장암적발병구유상관성,기중-137C등위기인가능시결직장암적유전역감기인.
Objective To investigate single nucleotide polymorphisms(SNPs) and haplotypes of interleukin-18(IL-18) gene associated with the susceptibility to colorectal cancer(CRC).Methods Two SNPs of IL-18 gene promoter -137G/C and -607C/A in 170 patients with CRC and 160 healthy controls matched by age and sex in a Chinese population were analyzed using polymerase chain reactionrestrictinn fragment length polymorphism (PCR-RFLP) strategy.Frequency of haplotypes and linkage disequilibrium of IL-18 gene in different groups were analyzed by SHEsis programs. Results The distributions of IL-18 gene -607C/A polymorphism did not differ between CRC patients and healthy controls,but IL-18 gene -137G/C polymorphism was significantly different (P＜0.05).The relative risk of C allele for CRC was 1.814 times of the G allele (OR=1.814,95％ CI:1.246-2.642).Consistent with the results of the genotyping analyses,IL-18 -137G/C and -607C/A polymorphisms showed strong linkage disequilibrium (｜D'1=0.945),frequency of the -137C/-607A haplotype in patients with CRC was significantly higher than that in healthy controls (P＜0.05).The -137C/-607A haplotypewas associated with a significantly increased risk of CRC (OR =1.637, 95％ CI:1.100-2.437).Conclusions IL-18 gene -137G/C polymorphism and -137C/-607A haplotype are associated with CRC -137C allele may be an important genetic susceptibility gene for CRC.