转录因子FOXP3基因多态性与广西壮族系统性红斑狼疮的遗传易感性  

Association of transcription factor FOXP3 gene polymorphism with genetic susceptibility to systematic lupus erythematosus in Guangxi Zhuang population

作　　者：蓝艳[1] 唐秀生[1] 覃俊[1] 武洁[1] 覃集敏[1] 

机构地区：[1]广西百色市右江民族医学院附属医院皮肤科,533000

出　　处：《中华医学遗传学杂志》2010年第4期433-436,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：广西教育厅基金资助课题（2006IOMS020）

摘　　要：目的 探讨转录因子FOXP3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120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FOXP3基因-2383 C/T、-3281 C/A单核苷酸多态性进行基因分型.结果 FOXP3基因-3281 C/A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FOXP3基因-2383 C/T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,-2383 T等位基因携带者患系统性红斑狼疮的风险是-2383 C等位基因的1.715倍（OR=1.715,95%CI：1.165～2.525）.联合基因型分析发现,FOXP3的-2383 T/-3281 A等位基因频率在SLE组中显著高于对照组（P＜0.05）,-2383 T/-3281 A等位基因携带者显著增加了SLE的发病风险（OR=2.196,95%CI：1.165～4.142）.结论 FOXP3基因-2383 C/T多态性与SLE的发病具有相关性,其中-2383 T等位基因可能是SLE的遗传易感基因.Objective To investigate the association of single nucleotide polymorphisms（SNP） of FOXP3 gene with susceptibility to systematic lupus erythematosus （SLE） in Chinese Zhuang population.Methods Author analyzed the -2383 C/T and -3281 C/A two SNPs of the FOXP3 gene promoter in 120 patients with SLE and 160 age and sex matched controls in a Chinese Zhuang population, using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） strategy and DNA sequencing.Results The distribution of the FOXP3 gene -3281 C/A polymorphism was not different between the two groups. However, the FOXP3 gene -2383 C/T polymorphism was significantly different （P＜ 0.05）between the two groups. The relative risk of suffering from SLE of -2383T allele carriers was 1.715 times of the -2383C allele carriers （OR= 1. 715,95% CI： 1.165-2. 525）. Consistent with the results of the genotyping analyses, the FOXP3 -2383T/-3281A haplotype frequency in patients with SLE was significantly higher than that in controls （P＜0.05）. The -2383T/-3281A allele was associated with a significantly increased risk of SLE （OR = 2.196, 95% CI： 1. 165-4. 142 ）. Conclusion The FOXP3 gene -2383C/T polymorphism is associated with SLE, and the - 2383T allele is risk factor for SLE in the population studied.

关 键 词：系统性红斑狼疮 基因多态性 转录因子FOXP3基因 

分 类 号：R593.241[医药卫生—内科学]