脂质代谢相关通路蛋白基因多态性的分布特征及与aMCI关系研究  

Distribution characteristics of gene polymorphisms of lipid metabolism-related pathway proteins and the relationship with amnestic mild cognitive impairment

作　　者：王金侠[1] 陈民[1] WANG Jin xia;CHEN Min(Department of Geriatrics,Affiliated Hospital of Liaoning University of Traditional Chinese Medicine,Shenyang 110032,China)

机构地区：[1]辽宁中医药大学附属医院老年病科,辽宁省沈阳市110032

出　　处：《实用老年医学》2020年第4期372-376,共5页Practical Geriatrics

摘　　要：目的研究遗忘型轻度认知功能障碍(amnestic mild cognitive impairment,aMCI)脂质代谢相关通路蛋白[载脂蛋白E(ApoE)、低密度脂蛋白受体(LDLR)、ATP结合盒转运蛋白A7(ABCA7)]基因多态性的分布特征,并探索以上蛋白基因多态性与aMCI发病的相关性。方法遵循病例对照研究原则,在沈阳市2家三级甲等医院及6个养老中心招募常住受试者600例,其中aMCI组300例,与之年龄、性别、疾病构成匹配的认知正常组300例。对所有受试者进行病史和一般临床资料采集及精神神经量表检测,采用iMDLR多重单核苷酸多态性(SNP)分型技术检测aMCI病人血液中ApoE(ε2、ε3、ε4)、LDLR(rs688和rs5925)、ABCA7(rs3752246)基因多态性分布特征,并探讨其与aMCI发病的相关性。结果 (1)2组间ApoE、ABCA7 rs3752246、LDLR rs688基因多态性差异有统计学意义(P <0. 05或P <0. 01)。(2)ApoEε4等位基因(OR=1. 453,95%CI:0. 976~2. 246)、LDLR rs688 T等位基因(OR=1. 356,95%CI:0. 218~1. 417)、ABCA7 rs3752246 C等位基因(OR=2. 092,95%CI:1. 477~5. 028)是aMCI的易感等位基因;ApoEε2等位基因是aMCI的保护等位基因(OR=0. 498,95%CI:0. 370~0. 821)。结论脂质代谢相关通路蛋白基因多态性与aMCI的发病存在一定相关性。Objective To investigate the distribution characteristics of apolipoprotein E(ApoE),low density lipoprotein receptor(LDLR)and ATP binding cassette transporter A7(ABCA7)gene polymorphisms of lipid metabolism related pathway proteins of amnestic mild cognitive impairment(aMCI),and to explore the correlation between the above protein gene polymorphisms and the incidence of aMCI. Methods Following the principle of case-control study,a total of 600 permanent residents were recruited from two tertiary hospitals and six pension centers in Shenyang. There were 300 cases in the aMCI group and 300 cases in the cognitively normal group with matched age,gender and disease history. The polymorphisms of ApoE(ε2、ε3、ε4),LDLR(rs688 and rs5925)and ABCA7(rs3752246)in the blood of aMCI patients were detected by iMDLR. Results There were statistically significant differences in ApoE,ABCA7 rs3752246 and LDLR rs 688 gene polymorphisms between the two groups(P < 0. 05 or P < 0. 01). ApoE ε4(OR=1. 453,95%CI:0. 976-2. 246),LDLR rs688 T allel(OR=1. 356,95%CI:0. 218-1. 417) and ABCA7 rs3752246 C allel(OR=2. 092,95%CI:1. 477-5. 028)were susceptible alleles for aMCI. ApoE ε2 was the protective allel for aMCI(OR=0. 498,95%CI:0. 370-0. 821). Conclusions Lipid metabolism related pathway protein gene polymorphism is correlated with the pathogenesis of aMCI.

关 键 词：遗忘型轻度认知功能障碍 脂质代谢 基因多态性 

分 类 号：R749.1[医药卫生—神经病学与精神病学]