甲基CpG结合蛋白2(MeCP2)基因多态性与长江以南汉族人群系统性红斑狼疮(SLE)的相关性  

Association of methyl-CpG-binding protein 2(MeCP2) polymorphisms withsystemic lupus erythematosus(SLE) among Chinese Han population in south of the Yangtze River

作　　者：任江萍[1] 彭春林[1] 陈水连[1] 付朝伟[1] 江峰[1] 李玉华[1] 孟炜[1] 

机构地区：[1]复旦大学公共卫生学院流行病学教研室-教育部公共卫生安全重点实验室,上海200032

出　　处：《复旦学报（医学版）》2012年第2期146-151,共6页Fudan University Journal of Medical Sciences

摘　　要：目的探讨甲基CpG结合蛋白2(methyl-CpG-binding protein 2,MeCP2)基因单核苷酸多态性与中国长江以南汉族人群系统性红斑狼疮(systemic lupus erythematosus,SLE)的易感性。方法采用病例对照研究设计,收集病例141例,对照144例。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对rs2239464、rs2075596两位点进行基因分型,在不同的遗传模式下分析两个位点基因多态性与SLE的相关性。根据赤池信息准则(Akaike’s information criteria,AIC)值最小原则,筛选最优模型。结果在显性、隐性、相加及相乘遗传模式下,两位点基因型或等位基因频率分布在病例组与对照组间的差异均有统计学意义(P<0.05)。显性遗传模式下,rs2239464、rs2075596位点GG/AG基因型为SLE的保护性基因型(ORrs2239464=0.528,95%CIrs2239464:0.315～0.885;ORrs2075596=0.435,95%CIrs2075596:0.264～0.717)。隐性遗传模式下,rs2239464、rs2075596位点GG基因型在统计学上具有显著的保护性作用(ORrs2239464=0.108,95%CIrs2239464:0.013～0.863;ORrs2075596=0.097,95%CIrs2075596:0.012～0.771)。相加遗传模式下,以AA基因型为参照,rs2239464位点GG基因型为SLE的保护性基因型(OR=0.094,95%CI:0.012～0.758),rs2075596位点AG及GG基因型也具有保护性作用(ORAG=0.498,95%CIAG:0.298～0.832;ORGG=0.077,95%CIGG:0.010～0.612)。相乘遗传模式下,rs2239464、rs2075596两位点的G等位基因为SLE的保护性等位基因(ORrs2239464=0.503,95%CIrs2239464:0.319～0.793;ORrs2075596=0.445,95%CIrs2075596:0.289～0.686)。rs2239464,rs2075596位点的最优遗传模式均为相加遗传模式。结论在中国长江以南汉族人群中MECP2基因rs2239464,rs2075596位点基因多态性与SLE相关,突变等位基因G可能是SLE保护性等位基因。Objective To explore the association of methyl-CpG-binding protein 2 （MeCP2） polymorphisms with systemic lupus erythematosus （SLE） among Chinese Han population in south of the Yangtze River. Methods There were 141 cases and 144 controls recruited to determine the genotypes ofrs2239464 and rs2075596through polymerase chain reaction-restriction fragment length polymorphism （PCR- RFLP） method. The involvement of the polymorphisms in SLE were analyzed under different genetic modes in which the optimum mode was screened by the lowest value of Akaike＇ s information criteria（AIC）. Results In rs2239464 and rs2075596,distributions of the genotypes or alleles between cases and controls were significantly different under dominant, recessive, additive and multiplicative mode, respectively （P 0.05）. Under dominant mode, the （W_;/AG genotypes in the both sites were the protective genotypes for SLE （ORrs2239464 = 0. 528,95 % CIrs2239464 ：0. 315 - 0. 885 ; ORrs2075596 = 0. 435,95 % CIrs2075596 ： 0. 264 - 0. 717）. Under recessive mode,the GG genotypes of rs2239464 and rs2075596 showed significant protective effect on SLE （ORrs2239464 = 0. 108,95 % CIrs2239464 ： 0.013 - 0. 863 ; ORrs2075596 = 0. 097,95 % CIrs2075596 ： 0. 012 - 0. 771 ）. Under additive mode,there was significant protective role in the GG genotype of rs2239464 （OR = 0. 094,95 % CI.. 0. 012 - 0. 758） ,relative to AA, and it was also found that significantly protective genotypes of AG and GG existed in rs2075596 （ORAG = 0. 498,95 % CIAG ：0. 298 - 0. 832 ; ORGG = 0. 077,95 % CIGG. ： 0. 010 - 0.612 ）. Under multiplieative mode, the G alleles of the both sites were significantly the protective allele for SIRE, separately （ORrs2239464 = 0. 503, 950% CIrs2239464：0. 319 -- 0. 793; ORrs2075596 = 0. 445, 95% Cirs2o75596 ： 0. 289 - 0. 686）. According to the lowest value of AIC, the additive mode was found optimal in rs2239464 and rs2075596. Conclusions The rs2239464 and rs2075596 polymorphisms in MECP2 are responsible

关 键 词：系统性红斑狼疮(SLE) 甲基CpG结合蛋白2(MeCP2) 单核苷酸多态性(SNP) 

分 类 号：R593.24[医药卫生—内科学]