聚集素及CLU基因多态性与阿尔茨海默病发病风险的关联研究
发布时间：2019-02-21 21:22
【摘要】：目的探讨中国汉族人群聚集素及CLU基因多态性与阿尔茨海默病风险性的关系及作用机制。 方法采用病例-对照研究方法,共入选了104名LOAD患者和性别、年龄与之相匹配的104名健康对照者。应用基质辅助的激光解析-电离飞行时间质谱(MALDI-TOF-MS)技术检测CLU基因rs9331888位点单核苷酸多态性的分布,载脂蛋白E(ApoE)基因多态性的分布应用等位基因特异性的多重PCR技术(Multi-ARMS)检测。采用双抗体夹心的酶联免疫吸附法(enzyme linked immunosorbent assay, ELISA)检测两组外周血浆聚集素的浓度。采用荧光定量聚合酶链反应(fluorescent quantitative polymerase chain reaction, FQ-PCR)检测两组外周血白细胞中CLU基因mRNA的表达水平。应用Pearson的相关分析探讨CLU基因mRNA和聚集素表达水平与AD患者简易精神状态量表评分的相关性。 结果两组间CLU基因rs9331888位点基因的频率和等位基因的频率均有显著差异(P=0.001；P0.001),等位基因G增加了LOAD的发病风险(OR=2.17,95%CI=1.45-3.23,P0.001)；患者组携带ApoE ε4等位基因的频率明显高于健康组(P=0.012)；病例组血浆聚集素浓度和CLU基因mRNA的表达水平均明显高于健康组(P=0.01；P=0.007)；两组中携带危险基因型(CG、GG)的人群蛋白和信使的表达水平均低于携带正常基因型(CC)的人群(P0.001)。外周血浆聚集素浓度与mRNA表达水平均与AD患者简易精神状态量表评分呈负相关。 结论CLU基因rs9331888位点单核苷酸多态性可能是通过影响CLU基因表达而作为LOAD发病的危险因素。
[Abstract]:Objective to investigate the relationship between polymorphism of agglutinin and CLU gene and risk of Alzheimer's disease in Chinese Han population. Methods A case-control study was conducted in 104 LOAD patients, gender and age matched 104 healthy controls. Matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS) was used to detect the distribution of single nucleotide polymorphisms at the rs9331888 site of the CLU gene. The distribution of apolipoprotein E (ApoE) gene polymorphism was detected by allele-specific multiplex PCR (Multi-ARMS). The concentration of plasma aggregin in peripheral blood of two groups was detected by double antibody sandwich enzyme-linked immunosorbent assay (enzyme linked immunosorbent assay, ELISA). The expression of CLU gene mRNA in peripheral blood leukocytes was detected by fluorescence quantitative polymerase chain reaction (fluorescent quantitative polymerase chain reaction, FQ-PCR). The correlation analysis of Pearson was used to investigate the correlation between the expression of CLU gene mRNA and agglutinin and the score of AD mini-mental state scale. Results there were significant differences in the frequency of rs9331888 locus and allele of CLU gene between the two groups (P0. 001, P0. 001). Allele G increased the risk of LOAD (OR=2.17,95%CI=1.45-3.23,P0.001). The frequency of carrying ApoE 蔚 4 allele was significantly higher in patient group than that in healthy group (P0. 012), the plasma concentration of aggregin and the expression level of CLU gene mRNA in patient group were significantly higher than those in healthy group (P0. 01, P0. 007). The expression levels of protein and messenger in both groups were lower than those with normal genotype (CC) (P0.001). There was a negative correlation between the concentration of plasma aggregin and the expression of mRNA in patients with AD. Conclusion the single nucleotide polymorphism at rs9331888 site of CLU gene may be a risk factor for LOAD by influencing the expression of CLU gene.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R749.16
本文编号：2427904
[Abstract]:Objective to investigate the relationship between polymorphism of agglutinin and CLU gene and risk of Alzheimer's disease in Chinese Han population. Methods A case-control study was conducted in 104 LOAD patients, gender and age matched 104 healthy controls. Matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS) was used to detect the distribution of single nucleotide polymorphisms at the rs9331888 site of the CLU gene. The distribution of apolipoprotein E (ApoE) gene polymorphism was detected by allele-specific multiplex PCR (Multi-ARMS). The concentration of plasma aggregin in peripheral blood of two groups was detected by double antibody sandwich enzyme-linked immunosorbent assay (enzyme linked immunosorbent assay, ELISA). The expression of CLU gene mRNA in peripheral blood leukocytes was detected by fluorescence quantitative polymerase chain reaction (fluorescent quantitative polymerase chain reaction, FQ-PCR). The correlation analysis of Pearson was used to investigate the correlation between the expression of CLU gene mRNA and agglutinin and the score of AD mini-mental state scale. Results there were significant differences in the frequency of rs9331888 locus and allele of CLU gene between the two groups (P0. 001, P0. 001). Allele G increased the risk of LOAD (OR=2.17,95%CI=1.45-3.23,P0.001). The frequency of carrying ApoE 蔚 4 allele was significantly higher in patient group than that in healthy group (P0. 012), the plasma concentration of aggregin and the expression level of CLU gene mRNA in patient group were significantly higher than those in healthy group (P0. 01, P0. 007). The expression levels of protein and messenger in both groups were lower than those with normal genotype (CC) (P0.001). There was a negative correlation between the concentration of plasma aggregin and the expression of mRNA in patients with AD. Conclusion the single nucleotide polymorphism at rs9331888 site of CLU gene may be a risk factor for LOAD by influencing the expression of CLU gene.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R749.16
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