本文選題：阿爾茨海默病 + 糖代謝��； 參考：《青島大學(xué)》2013年碩士論文

【摘要】：目的本研究旨在從基因水平深入研究兩糖代謝相關(guān)基因葡萄糖轉(zhuǎn)運(yùn)體14(SLC2A14)與胰島素樣生長因子1(IGF1)單核甘酸多態(tài)性(SNPs)與遲發(fā)性阿爾茨海默病(LOAD)易感性的關(guān)系,進(jìn)一步明確兩糖代謝相關(guān)基因是否參與阿爾茨海默病發(fā)病進(jìn)程及LOAD的糖代謝源性的作用機(jī)制。 方法選取LOAD患者和基本特征匹配的健康對照人群作為研究對象,應(yīng)用聚合酶鏈?zhǔn)椒磻?yīng)-連接酶檢測反應(yīng)技術(shù)(PCR-LDR)檢測SLC2A14基因rs10845990(G/T)與IGF1基因rs972936(C/T)多態(tài)性分布,并通過x2檢驗(yàn)和Logistic回歸進(jìn)行疾病關(guān)聯(lián)分析；應(yīng)用等位基因特異性多重PCR技術(shù)(Multi-ARMS)進(jìn)行APOE基因分型。 結(jié)果SLC2A14基因rs10845990、IGF1基因rs972936多態(tài)位點(diǎn)均與阿爾茨海默病的易感性相關(guān)聯(lián)(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),攜帶rs10845990最小等位基因型(GT+GG)可增加LOAD的發(fā)病風(fēng)險(xiǎn)(P0.005,OR=1.41)；攜帶rs972936等位基因T可增加LOAD的發(fā)病風(fēng)險(xiǎn)(P=0.047, OR=1.16)。APOE ε4分層后兩位點(diǎn)基因型和等位基因頻率僅APOE ε4(-)組差異顯著；Logistic回歸分析校正年齡、性別及APOE混雜因素后,rs10845990位點(diǎn)在顯性和疊加模型中、rs972936位點(diǎn)在隱性和疊加模型中仍與LOAD的發(fā)病風(fēng)險(xiǎn)顯著相關(guān)。 結(jié)論SLC2A14、IGF1基因是研究阿爾茨海默病糖代謝異常機(jī)制和氧化損傷機(jī)制的理想的候選基因,其遺傳多態(tài)性均與漢族人群LOAD遺傳易感性相關(guān)。糖代謝異常機(jī)制在阿爾茨海默病的發(fā)生過程中起重要作用。
[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.
【學(xué)位授予單位】：青島大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2013
【分類號(hào)】：R749.16

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本文編號(hào)：1820047