红细胞CD59分子及其基因单核苷酸多态性与系统性红斑狼疮的关联性

Association of Erythrocyte CD59 Molecule and CD59 Gene Single Nucleotide Polymorphism with Systemic Lupus Erythematosus

目的 分析红细胞CD59分子及其基因单核苷酸多态性(SNP)与系统性红斑狼疮(SLE)的关联性。方法 检测解放军总医院2008年2月—2009年1月诊治的119例SLE(SLE组)及117例体检健康者(对照组)CD59基因7个标签SNP位点基因型,并取2组各44例检测红细胞表面CD59分子水平,比较组间CD59分子水平、基因型频率和等位基因频率的差异。结果 SLE组红细胞CD59相对几何平均荧光强度低于对照组,但差异无统计学意义(P>0.05)。2组间rs11585和rs12576440基因型频率、等位基因频率比较差异有统计学意义(P<0.01),SLE组rs11585 TT基因型及T等位基因、rs12576440 AG基因型及G等位基因频率高于对照组(P<0.01),rs11585 CC基因型及C等位基因、rs12576440 AA基因型及A等位基因频率低于对照组(P<0.01)。结论 CD59基因rs11585、rs12576440多态性与SLE易感性相关,rs11585 TT基因型及T等位基因、rs12576440 AG基因型及G等位基因是SLE发生的危险因子,而rs11585 CC基因型及C等位基因、rs12576440 AA基因型及A等位基因是SLE发生的保护因子。

Objective To analyze the association of erythrocyte CD59 molecule and its gene single nucleotide polymorphism(SNP) with systemic lupus erythematosus(SLE). Methods Seven genotypes of SNP locus in CD59 genes were detected in 119 cases of SLE(SLE group) diagnosed and treated in PLA General Hospital from February 2008 to January 2009 and 117 cases of healthy physical examinees(control group). And 44 cases in each group were selected to detect levels of CD59 molecule on the surface of red blood cells(RBC), and the differences in CD59 molecular levels, genotype and allele frequencies were compared between groups. Results The relative geometric mean fluorescence intensity of erythrocyte CD59 in the SLE group was lower than that in the control group, but the difference was not statistically significant(P>0.05). There were significant differences in the genotype and allele frequencies of rs11585 and rs12576440 between the two groups(P<0.01). The rs11585 TT genotype and T allele, rs12576440 AG genotype and G allele frequencies in the SLE group were higher than those in the control group(P<0.01), while the frequencies of rs11585 CC genotype and C allele, rs12576440 AA genotype and A allele were lower than those in the control group(P<0.01). Conclusion The rs11585 and rs12576440 polymorphisms of CD59 gene are associated with the susceptibility to SLE. rs11585 TT genotype and T allele, rs12576440 AG genotype and G allele are risk factors for the occurrence of SLE, while rs11585 CC genotype and C allele, rs12576440 AA genotype and A allele are protective factors for the occurrence of SLE.