MPO及其基因多态与脑白质疏松症的研究

发布时间：2018-05-17 22:22

本文选题：髓过氧化物酶 + 基因多态性　；参考：《皖南医学院》2017年硕士论文

【摘要】：目的:在急性缺血性卒中患者中探讨髓过氧化物酶(Myeloperoxidase,MPO)及其基因多态与脑白质疏松症的相关性。方法:连续选取2014年1月至2016年3月入住皖南医学院弋矶山医院神经内科470例急性缺血性卒中患者,分为LA组和非LA组,应用酶联免疫吸附测定法测定各组血浆MPO的浓度;利用聚合酶链式反应-高分辨率熔解曲线(PCR-HRM)技术,判定MPOrs2243828(A/G)和rs2107545(C/T)两位点在入组患者中的基因型。采用卡方检验(X~2)和比值比检验(OR)分析两位点的等位基因及基因型在中国皖南地区汉族人群中的分布情况。结果:(1)血浆MPO与LA相关,且与LA的严重程度呈正相关。(2)rs2243828多态位点AA、AG、GG在LA组分别为196(62.4%)、99(31.5%)、19(6.1%);非LA组中分别为64(41.0%)、76(48.7%)、16(10.3%)。两组间各基因型分布频率比较有显著性差异(X~2=19.369,P=0.000)。A、G等位基因频率在LA组分别为78.2%、21.8%;非LA组中分别为65.4%、34.6%。两组等位基因频率比较有显著性差异(X~2=17.722,P=0.000,OR=0.527,95%CI=0.390~0.712);同时AAAG基因型频率比较有显著性差异(X~2=16.962,P=0.000,OR=0.425,95%CI=0.282~0.642),AAGG基因型频率比较亦有显著性差异(X~2=6.948,P=0.010,OR=0.388,95%CI=0.188~0.799)。而rs2107545多态位点TT、CT、CC在LA组分别为191(60.8%)、102(32.5%)、21(6.7%);非LA组中分别为81(51.9%)、62(39.7%)、13(8.3%)。两组间各基因型分布频率比较无显著性差异(X~2=3.392,P=0.184)。T、C等位基因频率在LA组分别为77.1%、22.9%;在非LA组中分别为71.8%、28.2%。两组等位基因频率比较无显著性差异(X~2=3.120,P=0.077)。同时,TT型CT型基因型频率比较无显著性差异(X~2=2.990,P=0.084,OR=1.433,95%CI=0.952~2.157);TT型CC型基因型频率比较亦无显著性差异(X~2=1.015,P=0.314,OR=1.460,95%CI=0.697~3.056)。结论:血浆MPO是LA的危险因素;MPO基因rs2243828(A/G)与LA的发病风险相关,等位基因G在LA的发生过程中起保护作用,这一作用的发挥可能与该多态位点影响了MPO基因转录水平,降低了酶活性有关;rs2107545与LA的发病风险无明显相关性。
[Abstract]:Aim: to investigate the relationship between myeloperoxidase (MPO) and myeloperoxidase (MPO) gene polymorphism and leukoaraiosis in patients with acute ischemic stroke. Methods: from January 2014 to March 2016, 470 patients with acute ischemic stroke were selected and divided into LA group and non-LA group. The plasma MPO levels in each group were determined by enzyme-linked immunosorbent assay (Elisa). The genotypes of MPOrs2243828Ar / Gr and rs2107545C / T were determined by polymerase chain reaction-high resolution melting curve PCR-HRM (PCR-HRM) technique. The distribution of alleles and genotypes of the two loci in Han population in southern Anhui was analyzed by chi-square test and ratio test. Results (1) there was a positive correlation between plasma MPO and LA, and there was a positive correlation between plasma MPO and LA severity. There was significant difference in the frequency of genotype distribution between the two groups. The allele frequencies of XY 219.369 Pu 0.000G in LA group were 78.2% and 65.44% 34.6% in non-LA group, respectively. There were significant differences between the two groups in allelic frequencies of XX2, 17.722, P0. 000, OR0. 390, 0. 390 and 0. 712, and the frequencies of AAAG genotypes were significantly different. There was also a significant difference in the frequency of AAAG genotypes between the two groups. There was also a significant difference in the genotype frequencies of XX26.948P0. 010OR0. 388CI0. 1888 and 0. 18899 999. 9. The frequency of the AAGG genotypes was also significantly different between the two groups in terms of CI0. 2822 0. 6422. The frequency of the AAGG genotype was also significantly different from that of the two groups, and there was also a significant difference between the two groups in the frequency of the alleles of the two groups. In the LA group, the rs2107545 polymorphism loci were 191C 60.8 and 102C 32.5, respectively, and in the non-LA group, they were 81% 51.9%, 39.7% and 138.3%, respectively. There was no significant difference in the frequency of genotype distribution between the two groups. The allele frequencies of Xan23.392Pu 0.1844 ~ .T ~ (C) allele in LA group were 77.1% and 22.9%, respectively, and in non-LA group were 71.8% and 28.2%, respectively. There was no significant difference in allele frequency between the two groups. At the same time, there was no significant difference in the frequency of CT genotypes of the TT type. There was no significant difference in the frequency of CC genotypes between the two genotypes (XN21.015, OR1.46095CI0.697and 3.056), and there was no significant difference in the frequencies of the CC genotypes of XX21.015P014OR1.46095CII 0.697or 3.056. Conclusion: plasma MPO is a risk factor for LA. MPO gene rs2243828A / G is associated with the risk of LA. Allele G plays a protective role in the development of LA, which may play a role in influencing the transcription level of MPO gene. The decrease of enzyme activity related to rs2107545 had no significant correlation with the risk of LA.
【学位授予单位】：皖南医学院
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R743.3

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