分拣蛋白受体1基因多态位点rs1133174与中国汉族遗忘型轻度认知损伤风险的关联研究

发布时间：2018-01-19 07:08

本文关键词： 分拣蛋白受体基因轻度认知损伤单核苷酸多态性中国汉族　出处：《南京医科大学学报(自然科学版)》2016年03期 　论文类型：期刊论文

【摘要】：目的 :探讨分拣蛋白受体1(sortilin-related receptor 1,SORL1)基因rs1133174多态性位点与遗忘型轻度认知损伤(amnestic mild cognitive impairment,a MCI)风险的相关性。方法 :募集了63例a MCI患者和179例正常健康对照,利用连接酶检测-聚合酶链反应(LDR-PCR)方法对SORL1基因多态性位点rs1133174进行基因分型,比较等位基因和基因型与a MCI发病风险的关系。结果:a MCI组中SORL1基因rs1133174等位基因G的频率显著高于正常对照组(OR=2.221,95%CI=1.396~3.533,P=0.000 6)。Logistic回归分析显示G等位基因携带者患病风险较非携带者增加(GG+GA vs.AA,OR=2.713,95%CI=1.495~4.918,P=0.000 5)。此外,分层分析发现多态性位点rs1133174可能是独立的风险因素。结论 :SORL1基因rs1133174多态性位点与中国汉族人群a MCI风险相关。
[Abstract]:Objective: to investigate the sortilin-related receptor 1 protein receptor. SORL1) gene rs1133174 polymorphism and amnestic mild cognitive impairment in amnesia. Methods: 63 patients with a MCI and 179 healthy controls were recruited. Polymerase chain reaction (PCR) LDR-PCR method was used to type the SORL1 gene polymorphism locus (rs1133174). Results the frequency of rs1133174 allele G of SORL1 gene in the MCI group was significantly higher than that in the normal control group (P < 0.05). OR=2.221. [95] CII 1.396 / 3.533. Logistic regression analysis showed that G allele carriers had higher risk of GG GA vs.AAORA 2.713 than non-carriers. 95 / CI1.495 / 4.918 / 0.0005. In addition. Stratified analysis revealed that the polymorphic locus rs1133174 may be an independent risk factor. Conclusion the rs1133174 polymorphism locus of the 1: SORL1 gene is associated with the Chinese Han population a. MCI risk related.
【作者单位】：南京市祖堂山精神病院;南京医科大学附属无锡精神卫生中心;青岛市精神卫生中心;
【基金】：无锡市卫生局课题（Q201208）;南京医科大学科技发展基金项目（2013NJMU203）;
【分类号】：R749.1
【正文快照】： 阿尔茨海默病(Alzheimer’s disease,AD)是一种严重的中枢神经系统退行性病变,以认知功能障碍和记忆力损伤为主要临床表现。其最主要的病理特征是细胞外淀粉样蛋白沉积形成的老年斑和细胞内的神经纤维缠结[1]。轻度认知功能损伤(mild cognitiveimpairment,MCI)是指患者表现为

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