CD40基因-1C/T位点基因多态性与系统性红斑狼疮发病、临床特征及SLEDAI指数的关系

Association of -1C/T gene polymorphism with SLE,clinical features and SLEDAI index in CD40 gene

目的探讨CD40基因5,非翻译区-1位点C/T单核甘酸多态性与汉族人群系统性红斑狼疮(SLE)发病、临床特征及系统性红斑狼疮疾病活动指数(SLEDAI)的关系。方法选取2013年1月至2016年1月收集的系统性红斑狼疮患者90例(病例组),同期体检健康对象90例作为对照组。采用聚合酶链反应-限制性内切酶技术检测两组人群CD40基因-1C/T位点基因多态性,并分析等位基因与基因型频率与临床特征、SLEDAI评分的关系。结果病例组的CC基因型频率(42.22%)显著高于对照组(24.44%)(P<0.05),病例组的CT、TT基因型与对照组比较差异无统计学意义(P>0.05);病例组等位基因C的频率61.67%显著的高于对照组的48.33%(P<0.05);病例组的CC基因型患者的SLEDAI评分显著的高于CT、TT基因型的患者(P<0.05),病例组的CT基因型患者的SLEDAI评分显著的高于TT基因型的患者(P<0.05);病例组90例患者,CC基因型患者的的关节炎、盘状红斑、颊部红斑、口腔溃疡发生率显著的高于基因型CT、TT患者(P<0.05);CT基因型患者的的关节炎、狼疮肾炎、盘状红斑、颊部红斑发生率显著的高于基因型TT患者(P<0.05)。结论 CD40基因-1C/T位点CC基因型会增加SLE患者的易感性,并且与患者病情有关。

ObjectiveTo investigate the correlation of CD40,5,untranslated region,-1site,C/T,nucleotide polymorphism with systemic lupus erythematosus(SLE),clinical features and systemic lupus erythematosus disease activity index(SLEDAI)in Han population.MethodsA total of90cases of patients diagnosed with systemic lupus erythematosus(case group)were selected from January2013to January2016,and90cases of healthy subjects were selected as control group.Polymerase chain reaction restriction endonuclease were used to detect CD40gene-1C/T polymorphism and its relationship with the clinical features,allele genotype and SLEDAI score were analyzed.ResultsThe CC genotype of the case group was significantly higher than that of the control group(P<0.05).There was no significant difference between the CT genotype and the control group(P>0.05).The frequency of gene C was61.67%,which was significantly higher than that of control group(48.33%,P<0.05).The SLEDAI score of patients with CC genotype was significantly higher than that of CT and TT genotype(P<0.05).The incidence of arthritis,discoid erythema,buccal erythema,and oral ulcers in90patients with CC genotype were significantly higher than those with TT genotype(P<0.05)in patients with CT genotype(P<0.05).The incidence of arthritis,lupus nephritis,discoid erythema and buccal erythema in patients with CT genotype was significantly higher than that in genotype TT patients(P<0.05).ConclusionCD40gene-1C/T locus CC genotype increases the susceptibility of patients with SLE and is associated with the patient's condition.