摘要/Abstract

摘要： 目的 ·探索 FOS基因与阿尔茨海默病（ Alzheimers disease，AD）的关联性，以及在中国汉族人群中该基因标签单核苷酸多态性（ single nucleotide polymorphism，SNP）位点 rs1063169与 AD的关联性。方法 ·使用 Alzdata网站比较 FOS基因在 AD患者不同脑区与健康人群的表达差异，通过 String数据库将 FOS蛋白与 28个 AD相关易感基因编码的蛋白构建蛋白质 -蛋白质相互作用（protein-protein interaction，PPI）网络，探索该基因在已知数据库中是否与 AD存在关联性。收集中国东部和西南部地区汉族人群中的 AD患者 715例和健康对照 760人，选取 FOS基因标签 SNP位点 rs1063169，采用 SNaPshot SNP分型技术对该位点进行分析。结果 · Alzdata网站的跨平台规范化表达数据显示， AD患者 FOS基因在内嗅皮质（ P0.003）和海马区域（ P0.001）的表达量与正常人群相比差异有统计学意义。 PPI网络显示， FOS蛋白与载脂蛋白 E（apolipoprotein E，APOE）、聚集素（ clusterin，CLU）、淀粉样前体蛋白（ β-amyloid precursor protein，APP）、酪氨酸蛋白激酶 -2β（protein-tyrosine kinase 2β，PTK2B）这 4个 AD相关易感基因编码蛋白间存在交互作用。中国东部和西南部地区汉族人群中的 AD患者与健康对照 rs1063169位点基因型及等位基因的分布频率间差异均无统计学意义（均 P>0.05）。结论 ·虽然 FOS基因在 AD患者与健康对照的内嗅皮质和海马中存在差异性表达，且 FOS蛋白可能通过与 AD相关易感基因编码蛋白的交互作用在 AD的发生发展过程中发挥作用，但在该研究收集的中国汉族人群中并未发现 FOS基因 rs1063169多态性与 AD之间的关联性。
关键词: 阿尔茨海默病, FOS基因, 单核苷酸多态性, rs1063169, 生物信息学
Abstract:
Objective · To investigate the relation between FOS gene and Alzheimers disease (AD), and the relation between tag single nucleotide polymorphism (SNP) in rs1063169 and AD in Han Chinese people. Methods · The difference in FOS gene in various brain regions between AD patients and healthy people was studied using Alzdata website, and protein-protein interaction (PPI) network among FOS protein and 28 proteins encodedAD-related susceptibility genes was constructed through String database into explore whether FOS gene was associated with AD in these known database. Then, 715 AD patients and 760 healthy controls Southwest and East China were collected to analyze tag SNP rs1063169SNaPshot assay. Results · The cross-platform normalized data on Alzdata showed that FOS gene in AD patients expressed differently in entorhinal cortex (P0.003) and hippocampus (P0.001) compared with healthy people. PPI network found out that FOS protein had interactions with 4 proteins encodedAD-related susceptibility genes, which were apolipoprotein E (APOE), clusterin (CLU), β-amyloid precursor protein (APP), and protein-tyrosine kinase 2β (PTK2B). However, there was no significant difference in the frequencies of genotypes and alleles in rs1063169 between the AD cases and the healthy controls (P>0.05). Conclusion · There is differential of FOS in the entorhinal cortex and hippocampus of AD patients and healthy people, and FOS protein may have effects on the development of AD through the interaction with proteins encodedAD-related susceptibility genes, but no relation was found between rs1063169 polymorphism and AD in the collected Han Chinese people.
Key words: Alzheimers disease, FOS gene, single nucleotide polymorphism (SNP), rs1063169, bioinformatics


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