中国河北汉族人群基质金属蛋白酶9基因R279Q多态性与视神经脊髓炎及多发性硬化的相关性

发布时间：2018-03-18 15:39

本文选题：基质金属蛋白酶-9　切入点：视神经脊髓炎　出处：《河北医科大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的:探讨基质金属蛋白酶-9(MMP-9)基因R279Q多态性与NMO及MS的关系,为两者早期鉴别诊断提供一定的依据。方法:采用聚合酶链式反应(PCR)及测序技术检测55例NMO患者(NMO组)、37例MS患者(MS组)及65例健康体检者(正常对照组)MMP-9基因R279Q多态性,运用SPSS17.0软件分析实验数据,判别MMP-9基因R279Q多态性与NMO及MS是否相关。结果:NMO与MS组相比基因型总体分布具有统计学差异(P0.05),NMO与正常对照组及MS与正常对照组间基因型总体分布未见统计学差异(P0.05)。由于本实验AA基因型属于罕见基因型,故将其与GA基因型合并,与正常对照组及MS组相比,NMO组GA+AA基因型显著增高,差别具有统计学意义(P0.05);与正常对照组相比,MS组GA+AA基因型并未发现统计学差异(P0.05),各组间等位基因频率未发现统计学差异。按性别分层后NMO组女性GA+AA基因型较正常对照组及MS组增高(P0.05),A等位基因频率明显高于正常对照组,差异具有统计学意义(P0.05),OR=2.889(95%CI1.242-8.349),MS组女性各基因型及等位基因频率与正常对照组相比未见统计学差异(P0.05),各组男性不同基因型及等位基因频率间差别未见统计学差异(P0.05),各组男性与女性之间不同基因型及等位基因频率未见统计学差异(P0.05)。NMO组与MS组各基因型与首发年龄、发病次数间未发现统计学差异,按性别分层后仍未见统计学差异(P0.05)。结论:MMP-9基因R279Q多态性与中国河北汉族人群NMO易感性高度相关,这种相关在女性更加明显;且A等位基因可能增加女性罹患NMO的风险;MMP-9基因R279Q多态性与NMO及MS患者首发年龄、发病次数、EDSS评分间未见明显相关性。
[Abstract]:Objective: to investigate the association of matrix metalloproteinase-9 (MMP-9) gene R279Q polymorphism with NMO and MS. Methods: polymerase chain reaction (PCR) and sequencing techniques were used to detect the R279Q polymorphism of MMP-9 gene in 55 patients with NMO and 37 patients with MS. Using SPSS17.0 software to analyze the experimental data, Results the total genotype distribution of MMP-9 gene was significantly different from that of the control group and the normal control group, and there was no significant difference in the total genotype distribution between MS and the control group. Because the AA genotype in this experiment is a rare genotype, Compared with normal control group and MS group, GA-AA genotype in NMO group was significantly higher than that in normal control group and MS group. There was no significant difference in GA AA genotype between MS group and normal control group, but there was no significant difference in allele frequency among groups. After stratified by sex, GA AA genotype of female in NMO group was higher than that in normal control group. The frequency of P0.05A allele in normal control group and MS group was significantly higher than that in normal control group. There was no statistical difference in genotype and allele frequency between MS group and normal control group (P 0.05), but there was no statistical difference between different genotype and allele frequency among male and male (P 0.05). There was no significant difference in genotype and allele frequency between sex and female. There was no statistical difference between the incidence frequency and sex stratification. Conclusion the R279Q polymorphism of the 10% MMP-9 gene is highly correlated with the susceptibility to NMO in Hebei Han population, which is more obvious in women. There was no significant correlation between the R279Q polymorphism of MMP-9 gene and the onset age of NMO and MS.
【学位授予单位】：河北医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R744.5

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