miR-499、miR-196a2、miR-149单核苷酸多态性与系统性红斑狼疮的关联性

Associations of Single Nucleotide Polymorphisms in miR-499,miR-196a2 and miR-149 with Systemic Lupus Erythematosus

目的：探讨系统性红斑狼疮（systemic lupus erythematosus，SLE）患者与 miR-499、miR-196a2及 miR-149单核苷酸多态性（single nucleotide polymorphism，SNP）的关联性。方法选取111例 SLE 患者（SLE 组）与120例健康者（对照组）为研究对象，收集临床资料并抽取2 mL 外周静脉血，提取基因组 DNA。利用 PCR-RFLP 技术对研究对象 miR-499 rs22928323、miR-196a2 rs11614913、miR-149 rs3746444的单核苷酸多态性进行检测，分析 SLE与 SNP 的关联性。结果miR-196a2 rs11614913表现为 TT、TC、CC 3种基因型，与 miR-196a2基因型 TT＋TC相比，基因型为 CC 的患者发病风险增加，OR＝1．28，95％CI 为1．03～1．84，P ＝0．017；miR-149 rs22928323表现为 TT、TC、CC 3种基因型，与 miR-149基因型 TT＋TC 相比，基因型为 CC 的患者发病风险不增加，OR ＝0．61，95％CI 为0．38～1．38，P ＝0．283；miR-499 rs3746444表现为 AA、AG、GG 3种基因型，与 miR-449基因型 AA＋AG 相比，基因型为 GG 的患者发病风险不增加，OR ＝0．78，95％ CI 为0．58～1．11，P ＝0．188。结论miR-196a2内的SNP rs11614913与中国华东地区人群 SLE 的遗传易感性有关；miR-499、miR-149内的 SNPs rs3746444、rs22928323与中国华东地区人群 SLE 的遗传易感性无关。

Objective To investigate the associations of single nucleotide polymorphisms(SNPs)in miR-499,miR-196a2 and miR-149 with systemic lupus erythematosus(SLE).Methods One hundred and eleven SLE patients(SLE group)and 120 healthy subjects(control group)were recruited in this study.Clinical data were collected and peripheral venous blood samples(2mL)were drawn to extract genomic DNA.The SNPs in miR-499rs22928323,miR-196a2rs11614913 and miR-149rs3746444 were detected by PCR-RFLP.The correlation between SLE and SNP was analyzed.Results The miR-196a2rs11614913 was genotyped as TT,TC and CC.Compared with miR-196a2TT/TC genotype,miR-196a2 CC genotype was associated with an increased risk of SLE(OR=1.28,95%CI:1.03-1.84,P=0.017).The miR-149rs22928323 was genotyped as TT,TC and CC.Compared with miR-149TT/TC genotype,miR-149 CC genotype was not associated with an increased risk of SLE(OR=0.61,95%CI:0.38-1.38,P=0.283).The miR-499rs3746444 was genotyped as AA,AG and GG.Compared with miR-449AA/AG genotype,miR-449 GG genotype was not associated with an increased risk of SLE(OR=0.678,95%CI:0.58-1.11,P=0.188).Conclusion The rs11614913 genotype in miR-196a2,but not rs22928323 genotype in miR-149 and rs3746444genotype in miR-499,is correlated with susceptibility to SLE in Chinese population.