白细胞介素-18基因多态性与广西壮族系统性红斑狼疮的遗传易感性

目的 探讨白细胞介素-18(interleukin 18,IL-18)基因单核苷酸多态性与广西壮族系统性红斑狼疮(systematic lupus erythematosus,SLE)易感性之间的关系.方法 以115例SLE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和DNA测序的方法对IL-18基因-137G/C、-607C/A单核苷酸多态性进行基因分型.结果 IL-18基因-137G/C多态性在SLE组和正常人群中的分布差异无统计学意义(P>0.05),而IL-18基因-607C/A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,-607 C等位基因携带者患系统性红斑狼疮的风险是-607A等位基因的1.619倍(OR=1.619,95%CI:1.150-2.281).联合基因型分析发现,IL-18的-137G/-607C等位基因频率在SLE组中显著高于对照组(P<0.05).-137G/-607C等位基因携带者显著增加了SLE的发病风险(OR=1.484,95%CI:1.056-2.087).结论 IL-18基因-607C/A多态性与SLE的发病具有相关性,其中-607 C等位基因可能是SLE的遗传易感基因.

Association of interleukin-18 gene polymorphism with genetic susceptibility to systematic lupus erythematosus in Guangxi Zhuang population

OBJECTIVE: To investigate the association of the single nucleotide polymorphisms of interleukin-18 (IL-18) gene with the susceptibility to systematic lupus erythematosus (SLE) in a Chinese Zhuang population. METHODS: Two single nucleotide polymorphisms of the IL-18 gene promoter were analyzed, namely -137G/C and -607C/A, in 115 patients with SLE and 160 age and sex-matched controls in a Chinese Zhuang population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy and DNA sequencing. RESULTS: The IL-18 gene -607C/A polymorphism was significantly different between the SLE and control group (P < 0.05). The relative risk of SLE for -607C allele carrier was 1.619 times of the -607A allele carriers (OR=1.619, 95%CI: 1.150-2.281). Consistent with the results of the genotyping analyses, IL-18 -137G/-607C allele frequencies in patients with SLE was significant higher than that in controls (P < 0.05). The -137G/-607C allele was associated with a significantly increased risk of SLE (OR=1.484, 95%CI: 1.056-2.087). However, there was no difference of the distributions of the -137G/C polymorphism of the IL-18 gene between the SLE and control groups. CONCLUSION: IL-18 gene -607C/A polymorphism was associated with SLE, the -607C allele may be a risk factor for SLE.