SLC2A14、IGF1基因多态性与中国汉族人群迟发性阿尔茨海默病易感性的关联研究

发布时间：2018-04-29 13:03

本文选题：阿尔茨海默病 + 糖代谢　；参考：《青岛大学》2013年硕士论文

【摘要】：目的本研究旨在从基因水平深入研究两糖代谢相关基因葡萄糖转运体14(SLC2A14)与胰岛素样生长因子1(IGF1)单核甘酸多态性(SNPs)与迟发性阿尔茨海默病(LOAD)易感性的关系,进一步明确两糖代谢相关基因是否参与阿尔茨海默病发病进程及LOAD的糖代谢源性的作用机制。方法选取LOAD患者和基本特征匹配的健康对照人群作为研究对象,应用聚合酶链式反应-连接酶检测反应技术(PCR-LDR)检测SLC2A14基因rs10845990(G/T)与IGF1基因rs972936(C/T)多态性分布,并通过x2检验和Logistic回归进行疾病关联分析；应用等位基因特异性多重PCR技术(Multi-ARMS)进行APOE基因分型。结果SLC2A14基因rs10845990、IGF1基因rs972936多态位点均与阿尔茨海默病的易感性相关联(基因型P=0.015,等位基因P=0.039；基因型P=0.006,等位基因P=0.047),携带rs10845990最小等位基因型(GT+GG)可增加LOAD的发病风险(P0.005,OR=1.41)；携带rs972936等位基因T可增加LOAD的发病风险(P=0.047, OR=1.16)。APOE ε4分层后两位点基因型和等位基因频率仅APOE ε4(-)组差异显著；Logistic回归分析校正年龄、性别及APOE混杂因素后,rs10845990位点在显性和叠加模型中、rs972936位点在隐性和叠加模型中仍与LOAD的发病风险显著相关。结论SLC2A14、IGF1基因是研究阿尔茨海默病糖代谢异常机制和氧化损伤机制的理想的候选基因,其遗传多态性均与汉族人群LOAD遗传易感性相关。糖代谢异常机制在阿尔茨海默病的发生过程中起重要作用。
[Abstract]:Objective to investigate the relationship between glucose transporter 14SLC2A14) and insulin-like growth factor 1 (IGF1) mononuclear polymorphic SNPs (SNPs) and the susceptibility to delayed Alzheimer's disease (LOADD) at the gene level. To further clarify whether the related genes involved in the pathogenesis of Alzheimer's disease and the mechanism of glycometabolism of LOAD. Methods the polymorphism distribution of SLC2A14 gene rs10845990 G / T and IGF1 gene rs972936 C / T was detected by polymerase chain reaction-ligase assay (PCR-LDR) in LOAD patients and matched healthy controls. The disease association analysis was carried out by x2 test and Logistic regression, and APOE genotyping was performed by allele-specific multiplex PCR technique. Results the rs972936 polymorphism of SLC2A14 gene rs10845990 was associated with the susceptibility to Alzheimer's disease (genotype P0. 015, allele P0. 039, genotype P0. 006, allele Pn0. 047, carrying the smallest rs10845990 allele, GT GGG), which could increase the risk of LOAD. Rs972936 allele T could increase the risk of LOAD. The difference of genotype and allele frequency between OR=1.16).APOE 蔚 4 and APOE 蔚 4 was significant. Logistic regression analysis was used to correct the age. After sex and APOE confounding factors, rs10845990 locus was still significantly associated with the risk of LOAD in dominant and superposition models in recessive and superposition models. Conclusion SLC2A14 IGF1 gene is an ideal candidate gene for studying the abnormal mechanism of glucose metabolism and oxidative damage in Alzheimer's disease. The genetic polymorphism of SLC2A14 IGF1 gene is related to the susceptibility to LOAD in Han population. The abnormal mechanism of glucose metabolism plays an important role in the pathogenesis of Alzheimer's disease.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R749.16

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