CD22基因多态性与中国南方汉族人群系统性红斑狼疮相关性研究

目的 探讨CD22基因T＞A位点(SNPrs2267574)与中国南方汉族人群系统性红斑狼疮(SLE)的遗传易感性及其表型间的相关性.方法 采用病例对照研究,收集215例病例和216例对照,应用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)技术进行基因分型,分析基因与疾病关联性以及表型相关性.结果 SLE患者组AT基因型的频率高于对照组(OR=1.68,95%CI:1.08～2.60,P=0.021);以T等位基因为参照,A等位基因的OR=1.58,95%CI:1.09～2.29,P=0.015;且A等位基因频率在抗SSA抗体阳性组高于抗SSA抗体阴性组(OR=3.69,95%CI:2.08～6.52,P＜0.01).结论 在中国南方汉族人群中,CD22基因T＞A位点与SLE具有相关性,抗SSA抗体的产生与A等位基因有关.

Association analysis of CD22 polymorphism with the development of systemic lupus erythematosus in Southern Chinese Han people

Objective To explore the association of CD22 gene T＞A locus (SNPrs2267574) with the development of systemic lupus erythematosus (SLE) and SLE phenotypes in Southern Chinese Han people.Methods Two hundreds fifteen cases and 216 normal controls were enrolled with the aim of case-control design,and the genotype was determined by PCR-RFLP.We calculated X2 and ORs for association study.Results In CD22 gene T＞A locus,there was significant difference of genotypes distribution between cases and controls (X2=6.086,P＜0.05).The frequency of AT genotype was higher in cases than in controls (OR=1.68,95%CI:1.08～2.60,P=0.021 ),and A allele had a higher proportion in cases (OR=1.58,95%CI:1.09～2.29,P=0.015).Meanwhile,the frequency of A allele in patients with positive anti-SSA was higher than in patients with negative anti-SSA (OR=3.69,95%CI:2.08～6.52,P＜0.01 ).Conclusion In Southern Chinese Han population,CD22 gene T＞A locus is associated with the development of SLE and the A allele has positive association with anti-SSA.