探讨补体受体1基因与脑脊液中相关蛋白的关系  

Relationship between complement component (3b/4b) receptor 1 gene and related proteins in cerebrospinal fluid

作　　者：朱夕陈 孙杨[1] 马涛[1] 徐德恩[1] Zhu Xichen;Sun Yang;Ma Tao;Xu Deen(Department of Neurology,Wuxi No.2 People's Hospital,Wuxi 214000,Jiangsu Province,China)

机构地区：[1]无锡市第二人民医院神经内科,214000

出　　处：《中华老年心脑血管病杂志》2020年第5期497-501,共5页Chinese Journal of Geriatric Heart,Brain and Vessel Diseases

基　　金：国家自然科学基金(81801054);江苏省自然科学基金(BK20180166);无锡市卫生计生委青年项目(Q201722)。

摘　　要：目的探讨补体成分(3b/4b)受体1基因[the complement component (3b/4b) receptor 1gene,CR1]多态性与脑脊液相关蛋白的关系。方法从美国国立老年研究所组织建立的阿尔茨海默病(AD)神经影像学研究数据库中选择812例受试者,其中48例AD患者为AD组,483例轻度认知障碍(MCI)患者为MCI组,281例正常对照(NC)者为NC组。用免疫分析试剂盒和xMAP Luminex试剂盒检测入选者脑脊液中β淀粉样蛋白(Aβ)、总tau(t-tau)蛋白和磷酸化tau(p-tau)蛋白水平。结果 AD组rs61522287位点基因突变后,GA基因型较GG基因型脑脊液Aβ42水平增加[(193.20±79.05)ng/L vs(137.90±37.28)ng/L,P=0.03762]。8个CR1的单核苷酸多态性(SNP)位点可以调节AD患者脑脊液中t-tau蛋白和p-tau蛋白水平。11个CR1的SNP突变位点参与调节MCI组患者tau蛋白水平。3个CR1的SNP位点基因突变增加MCI组脑脊液中Aβ42水平。rs41274776和rs12567945位点突变同时增加NC组脑脊液中p-tau和Aβ42水平。结论本研究率先明确了CR1的SNP位点与脑脊液蛋白(Aβ42,t-tau和p-tau)之间的关系,这对未来寻找AD的早期诊断,早期筛查提供了新思路。Objective To study the relationship between the polymorphism of complement component(3 b/4 b) receptor 1(CR1) gene and related proteins in cerebrospinal fluid(CSF).Methods Eight hundred and twelve subjects selected from the AD neuroimaging database developed by the National Geriatrics Institute of USA were divided into AD group(n=48),mild cognitive impairment(MCI) group(n=483) and control group(n=281).The serum levels of Aβ,t-tau and p-tau proteins in CSF were measured with immunoassay kit and xMAP Luminex kit respectively.Results The CR1 gene mutation at rs61522287 site increased the Aβ42 protein level in CSF in AD group.The mononuleotide polymorpholism at 8 CR1 gene sites could regulate the levels of t-tau and p-tau proteins in CSF of AD patients.The mutation at 11 CR1 gene sites was involved in regulating t-tau protein in MCI group.The mutation at 3 CR1 gene sites increased the Aβ42 protein level in CSF in MCI group.In addition,the gene mutation at rs41274776 and rs12567945 sites could increase not only the t-tau protein level but also the Aβ42 protein level in CSF in control group.Conclusion The polymorphism of CR1 gene is related with the levels of Aβ42,t-tau and p-tau proteins,which can thus provide certain new ideas for the early diagnosis of AD.

关 键 词：受体 补体 脑脊髓液 阿尔茨海默病 载脂蛋白E类 淀粉样β肽类 多态性 单核苷酸 

分 类 号：R749.16[医药卫生—神经病学与精神病学]