汉族人群系统性红斑狼疮的易感位点及其多态性的相关性研究  

Study on the susceptibility loci of systemic lupus erythematosus in Chinese Han population and association study of polymorphisms

作　　者：余泽莹[1,2,3] 陆闻生[1,2,3] 韩建文[1,2,3] 孙良丹[1,2,3] 李芸[1,2,3] 左先波[1,2,3] 周伏圣[1,2,3] 张学军[1,2,3] 杨森[1,2,3] 

机构地区：[1]安徽医科大学第一附属医院皮肤病研究所,皮肤科,合肥230022 [2]皮肤病学国家重点实验室培育基地,合肥230032 [3]安徽医科大学皮肤病与性病学系,合肥230032

出　　处：《安徽医科大学学报》2011年第9期946-949,共4页Acta Universitatis Medicinalis Anhui

基　　金：国家自然科学基金(编号:30972727);安徽皮肤遗传研究创新研究团队项目(编号:TD200701)

摘　　要：目的研究系统性红斑狼疮(SLE)的易感位点、基因及其多态性与汉族人群SLE易感性的关系。方法应用Se-quenom MassArray质谱阵列技术对5×10-6<P<1×10-4的7个单核苷酸多态性(SNPs)位点(rs7579944、rs906868、rs2868729、rs3793177、rs10764818、rs389018、rs399083)进行基因分型,并再收集两组独立人群进行验证。结果认为SNP rs7579944、rs906868和rs2868729的等位基因频率在病例组和对照组间差异有统计学意义(rs7579944:OR=1.17,95%CI:1.10～1.24,Pcombined=1.43×10-7;rs906868:OR=1.18,95%CI:1.11～1.25,Pcombined=3.91×10-8;rs2868729:OR=1.19,95%CI:1.12～1.27,Pcombined=1.09×10-7)。结论分别位于2p23.1和4q21.2两个区域的SNP rs7579944、rs906868和rs2868729与SLE的易感性相关,其区域中的LBH、COQ2、PLAC8和HPSE可能是SLE的易感基因。Objective To investigate the original loci/genes of systemic lupus erythematosus（SLE） and relationship between single nucleotide polymorphisms and SLE susceptibility in Chinese Han population.Methods Based on the results of genome-wide association study of SLE which were performed by our team,Sequenom MassArray system was used to genotype seven risk SNPs which the P value between the 5×10-6 and 1×10-4（rs7579944,rs906868,rs2868729,rs3793177,rs10764818,rs389018,rs399083）and performed a replication study in two cohorts individuals.The association results were analyzed by Plink 1.06 software.Results Association analysis which combined with the data set from the Illumina 610 chip genotyping date displayed that there were significant differences between the cases and the controls in the allele frequency of SNPs rs7579944,rs906868 and rs2868729（rs7579944：OR=1.17,95% CI：1.10～1.24,Pcombined=1.43×10-7;rs906868：OR=1.18,95% CI：1.11～1.25,Pcombined=3.91×10-8;rs2868729：OR=1.19,95% CI：1.12～1.27,Pcombined=1.09×10-7）.Conclusion The results indicated that the SNP rs7579944,rs906868 at 2p23.1 and rs2868729 at 4q21.2 showed significant association with SLE.The four genes（LBH,COQ2,PLAC8 and HPSE） which located in the two loci might be the predisposing genes of SLE.

关 键 词：红斑狼疮 系统性/遗传学 多态性 单核苷酸 疾病易感性 汉族 

分 类 号：R593.241[医药卫生—内科学] R394.3[医药卫生—临床医学]