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  

A Research about SORL1 Gene Expression and rs2282649 Polymorphism Associated with Late-onset Alzheimer's Disease

作　　者：王健[1] 杨军平[1] 

机构地区：[1]江西中医药大学附属医院,江西南昌330006

出　　处：《中国医学创新》2015年第33期1-3,共3页Medical Innovation of China

基　　金：2013年度江西中医药大学校级课题(2013ZR006)

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（sna Pshot）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（字2=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（字2=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 sna Pshot in BGI Shenzhen.Result：The genotype and allete of LOAD group and normal control group had group representation（P0.05）.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（P0.05）.The frequencies of the allele C of two groups had significant difference（ 字2=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.

关 键 词：阿尔茨海默病 SORLl基因 单核苷酸多态性 

分 类 号：R749.16[医药卫生—神经病学与精神病学]