摘要
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测序的方法对皿馏基因-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），而皿馏基因-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，-607C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-607C等位基因可能是SLE的遗传易感基因。
Objective To investigate the association of the single nucleotide polymorphlsms 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. Restdts 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 cartier 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, II-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 in- creased 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. Condusion IL-18 gene - 607C/A polymorphism was associated with SLE, the - 607C allele may be a risk factor for SLE.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2008年第4期434-437,共4页
Chinese Journal of Medical Genetics
基金
广西教育厅基金资助课题（200610MS020）
