SORL1基因表达及其rs2282649位点多态性与迟发性阿尔茨海默病相关性研究

摘要

目的：分析江西地区汉族人群分拣蛋白相关受体1（SORLl）及其rs2282649位点多态性与迟发性阿尔茨海默病（LOAD）是否存在关联。方法：采用病例对照研究，提取所有研究对象的外周血中基因组DNA，应用逆转录聚合酶链反应（RT-PCR）扩增DNA，送至深圳华大基因应用单碱基多位点微测序法（snaPshot）检测SORLI基因和rs2282649位点单核苷酸多态性的表达分布情况。结果：LOAD组和对照组的基因型频率、等位基因的分布具有群体代表性（P>0.05）。LOAD组中TT、TC和CC基因型分别为80例（59.3%）、35例（25.9%）和20例（14.8%），对照组分别为64例（34.2%）、75例（40.1%）和48例（25.7%），两组的SORLl基因rs2282649单核苷酸多态性基因型分布比较差异有统计学意义（χ2=11.254，P=0.007），两组的C等位基因频率分布比较差异有统计学意义（χ2=5.402，P=0.019，OR=1.528，95%CI=0.872~2.116）。结论：SORL1基因与江西地区汉族人群LOAD的发生相关，其中rs2282649位点单核苷酸多态性占据重要作用，C等位基因为危险等位基因。%Objective:To analyze the association between SORLl and rs2282649 polymorphisms of LOAD in Jiangxi Han population.Method:A case-control study was performed and all subjects’ peripheral genomic DNA was extracted.RT-PCR was applied to amplify DNA and then the expression and distribution of SORL1 gene and rs2282649 were detected through snaPshot in BGI Shenzhen.Result:The genotype and allete of LOAD group and normal control group had group representation (P>0.05).The genotype of TT, TC and CC of LOAD group were respectively 80 cases(59.3%),35 cases (25.9%) and 20 cases(14.8%); and in 187 cases of the control group of those were respectively 64 cases(34.2%),75 cases (40.1%) and 48 cases(25.7%).There was significant difference of the distribution of genotype and allele frequency between the two groups(P<0.05).The frequencies of the allele C of two groups had significant difference( χ2=5.402,P=0.019, OR=1.528,95%CI=0.872-2.116).Conclusion:SORL1 gene is associated with the occurrence of LOAD in Han population of Jiangxi province and rs2282649 single nucleotide polymorphism plays an important role,C allele is the risk allele.