APOE和SORL1基因联合检测对阿尔兹海默病患者早期诊断的意义

详细信息    查看全文 | 推荐本文 |

英文篇名：Clinical significance of combined detection of APOE and SOL1 genes in early diagnosis of Alzheimer′ s disease 作者：潘飞豹 ; 蒋世杰 英文作者：PAN Fei-bao;JIABNG Shi-jie;Department of Neurology,Suining Central Hospital; 关键词：阿尔兹海默病 ; 载脂蛋白E基因 ; 分拣蛋白相关受体L1基因 ; 早期诊断 英文关键词：Alzheimer′s disease;;Apolipoprotein gene;;Sortilin-related receptor 1gene;;Early diagnosis 中文刊名：GDJP 英文刊名：Anatomy Research 机构：遂宁市中心医院神经内科; 出版日期：2019-04-25 出版单位：解剖学研究 年：2019 期：v.41 语种：中文; 页：GDJP201902004 页数：4 CN：02 ISSN：44-1485/R 分类号：22-25

摘要

目的探讨载脂蛋白E(APOE)和分拣蛋白相关受体L1基因(SORL1)基因联合检测对阿尔兹海默病(AD)患者早期诊断的临床意义。方法选择2017年10月-2018年10月我院神经内科收治的AD患者118例作为研究组,另选90例同期健康体检者作为对照组,采用qRT-PCR检测两组外周血白细胞中APOE和SORL1基因相对表达量,比较APOE、SORL1基因对AD联合诊断与单独诊断的效果。结果对照组APOE基因平均相对表达量明显低于研究组,差异有统计学意义(P<0.05);对照组APOE基因平均相对表达量明显低于研究组,差异有统计学意义(P<0.05);APOE、SORL1基因联合诊断效果明显优于单独诊断效果,差异有统计学意义(P<0.05)。结论 APOE和SORL1基因联合检测可互补二者单独应用时的不足,在阿尔兹海默病患者早期诊断中具有较好的应用价值,值得推广。
        Objective To investigate the clinical significance of combined detection of APOE and SORL1 gene in early diagnosis of patients with Alzheimer′s disease(AD). Methods 118 AD patients(study group)and 90 healthy subjects(control group)admitted to our hospital from October 2017 to October 2018 were selected. The relative expression levels of APOE and SORL1 genes in peripheral blood leukocytes of the two groups were detected by qRT-PCR,and the combined diagnosis and single diagnosis effects of APOE and SORL1 genes on AD were compared. Results The average relative expression of APOE gene in the control group was significantly lower than that in the study group(P<0.05),and the average relative expression of APOE gene in the control group was significantly lower than that in the study group(P<0.05).The combined diagnosis effect of APOE and SORL1 gene was better than that of single diagnosis,with statistical difference(P<0.05). Conclusion The combined detection of APOE and SOL1 gene can complement the shortcomings of single detection. It has good application value in early diagnosis of AD and is worth popularizing.

引文

[1]樊东琼,李锐,雷旭,等.阿尔兹海默症及轻度认知障碍静息态大尺度脑网络功能连接的改变[J].心理科学进展,2016,24(2):217-227.
    [2]刘娟,杨立,张洪.中医药治疗阿尔兹海默病的研究进展[J].世界中医药,2016,11(5):932-935.
    [3]石婷婷,马兰,李静,等.胰岛素与糖尿病患者阿尔兹海默病的相关研究[J].中华老年多器官疾病杂志,2017,16(4):308-312.
    [4]陈洪琳,关放.黄连解毒汤促进匹伐他汀治疗阿尔兹海默症的机制研究[J].海南医学院学报,2016,22(19):2283-2286.
    [5]姜俊涛,张志仁,吴玉章.促红细胞生成素对β淀粉样蛋白致小胶质细胞功能改变的影响[J].免疫学杂志,2018,34(06):482-486.
    [6]朱琳,张志珺.动脉自旋标记成像在阿尔兹海默病诊断应用中的研究进展[J].东南大学学报(医学版),2016,35(3):422-426.
    [7]吴桐,郭开华,徐杰.阿司匹林对血小板APP代谢影响的研究进展[J].解剖学研究,2018,40(03):215-218.
    [8]王一夫,刘爽. MAPKs信号通路与阿尔兹海默病的研究进展[J].世界中医药,2016,11(9):1929-1931.
    [9]富雪婷,张萌,巴哈尔·哈德尔.探讨ApoE基因多态性在阿尔茨海默病的异常黑胆质与中医辨证的交互性研究[J].辽宁中医杂志,2018,45(01):13-16.
    [10]Mohamad EH,Antoine P,Amouyel P,et al. Apolipoprotein E(APOE)ε4 and episodic memory decline in Alzheimer′s disease:A review[J]. Ageing Research Reviews,2016,27(5)15-22.
    [11]Liu S,Park S,Allington G,et al. Targeting apolipoprotein E/amyloidβbinding by peptoid CPO_Aβ17-21 P ameliorates Alzheimer′s disease related pathology and cognitive decline[J]. Scientific Reports,2017,7(1):8009.
    [12]Burke SL,Peter M,Tamara C,et al. Associations between depression,sleep disturbance,and apolipoprotein E in the development of Alzheimer′s disease:dementia[J]. International Psychogeriatrics,2016,28(9):16.
    [13]Abbas G, Mahmood W, Kabir N. Recent progress on the role of GABAergic neurotransmission in the pathogenesis of Alzheimer′s disease[J]. Rev Neurosci,2016,27(4):449-455.
    [14]Shackleton B, Crawford F, Bachmeier C. Apolipoprotein E-mediated modulation of ADAM10 in Alzheimer′s disease[J]. Current Alzheimer Research,2017,14(6):578-585.
    [15]Verheijen J,Tobi VDB,Julie VDZ,et al. A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer′s disease[J]. Acta Neuropathologica,2016,132(2):213-224.
    [16]Huang CC,Liu ME,Kao HW,et al. Effect of Alzheimer′s disease risk Variant rs3824968 at SORL1on regional gray matter volume and age-related interaction in adult lifespan[J]. Scientific Reports,2016,21(3)23362.
    [17]Céline B, Charbonnier C, Grenierboley B,et al.Contribution to Alzheimer′s disease risk of rare variants in TREM2,SORL1,and ABCA7 in 1779 cases and 1273 controls[J]. Neurobiology of Aging,2017,59(11)220.
    [18]Louwersheimer E,Cohnhokke PE,Pijnenburg YAL,et al. Rare genetic variant in SORL1 may increase penetrance of Alzheimer′s disease in a family with several generations of APOE-4 homozygosity[J]. Journal of Alzheimers Disease Jad,2016,56(1):63-74.