CD40-1C／T基因多态性与系统性红斑狼疮的相关性研究  

Association of CD40 Gene Polymorphism with the Systemic Lupus Erythematosus

作　　者：朱琴芳[1] 丁倩倩[1] 俞钱[1] 李文静[1] 徐红星[1] 

机构地区：[1]南京医科大学附属苏州市立医院本部检验科,江苏苏州215002

出　　处：《现代检验医学杂志》2015年第6期46-48,共3页Journal of Modern Laboratory Medicine

摘　　要：目的研究CD40基因5’非翻译区（5’UTR）-1位点C／T单核苷酸多态性（SNP）在该地区系统性红斑狼疮（SLE）人群中的分布，探讨其与SLE的易感相关性。方法采用病例-对照研究方法，以107例门诊和住院SLE患者为研究对象，与109例正常对照组进行研究。应用聚合酶链反应一限制性内切酶片段长度多态性（PCR—RFI。P）测定CD40基因一1位点C／T单核苷酸多态性，计算基因型及等位基因频率；同时将CD40基因1C／T位点的三种基因型与SLE患者各种自身抗体检测结果进行比较。结果CD40基因-1C／T位点的基因型频率在SLE组和对照组中的分布差异有统计学显著性意义（P=0．035），其中SLE组的CC基因型频率明显高于对照组（OR值-2．020，P=0．016），CT基因型频率明显低于对照组（OR值=0．528，P=0．020）；而等位基因频率分布差异无统计学意义（P=0．114）。SLE患者的抗RNP，抗SSA，抗SSB，抗dsDNA和抗组蛋白抗体在CC基因型中的阳性率最高。结论CD40基因5’非翻译区-1位点CC基因型可能与该地区SLE的发生有关。Objective To investigate the distribution of CD40 gene 5＇-untranslated region（5＇-UTR） -1 site C/T single nucleotide polymorphism （SNP） and to study its relationship with local systemic lupus erythematosus（SLE） population. Methods 107 cases were selected from outpatient and inpatient of SLE patients for the study, another 109 healthy person chosen from healthy examined people were control group. The genotype and allele frequencies of CD40 gene polymorphism were as- sayed by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Meanwhile,the prevalences of every auto-antibodies in three genotypes were compared. Results Significant differences were observed in CD40-1C/T geno- type frequency between the SLE group and control group （P= 0. 035）. CC genotype frequency in SLE group was signifi- cantly higher than that in the control group （OR = 2. 020, P= 0.016）, and CT gen0type was significantly lower than that in the control group（OR=0. 528,P=0. 020）. However,there was no significant difference （P=0. 114） about the allele frequency distribution between two groups. The prevalences of anti-RNP, anti-SSA, anti-SSB, anti dsDNA and anti-histones an- tibodies in CC genotype were high. Conclusion CC genotype of CD40 gene 5＇-untranslated region-1 site might be associated with the development of the systemic lupus erythematosus in this region.

关 键 词：CD40 系统性红斑狼疮 基因多态性 

分 类 号：R593.241[医药卫生—内科学] Q786[医药卫生—临床医学]