上海交通大学学报(医学版) ›› 2019, Vol. 39 ›› Issue (1): 47-.doi: 10.3969/j.issn.1674-8115.2019.01.009

• 论著·临床研究 • 上一篇    下一篇

中国汉族FOS基因 rs1063169多态性与阿尔茨海默病的关联性研究

陈艳 1,方新宇 1,汪也微 1,倪建良 2,张江涛 2,卢卫红 1,李涛 3,张登峰 4,张晨 1   

  1. 1. 上海交通大学医学院附属精神卫生中心生化研究室,上海 200030;2. 浙江省立同德医院精神卫生科,杭州 310007;3. 四川大学华西医院心理卫生中心,成都 610041;4. 中国科学院昆明动物研究所,昆明 650223
  • 出版日期:2019-01-28 发布日期:2019-02-27
  • 通讯作者: 张晨,电子信箱:zhangchen645@gmail.com。
  • 作者简介:陈艳(1993—),女,硕士生;电子信箱:yanc820@163.com。
  • 基金资助:
    国家自然科学基金( 81471358);上海市科学技术委员会西医引导类项目( 14411969000);上海市卫生和计划生育委员会科研项目( 201540029)

Association analysis of FOS gene rs1063169 polymorphism and Alzheimers disease in Han Chinese people

CHEN Yan1, FANG Xin-yu1, WANG Ye-wei1, NI Jian-liang2, ZHANG Jiang-tao2, LU Wei-hong1, LI Tao3, ZHANG Deng-feng4, ZHANG Chen1   

  1. 1. Biochemical Laboratory, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China; 2. Department of Mental Health, Tongde Hospital of Zhejiang Province, Hangzhou 310007, China; 3. Psychological Health Center, West China Hospital, Sichuan University, Chengdu 610041, China; 4. Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China
  • Online:2019-01-28 Published:2019-02-27
  • Supported by:
    National Natural Science Foundation of China, 81471358; Western Medicine Guide Project of Shanghai Municipal Science and Technology Commission, 14411969000; Scientific Research Project of Shanghai Municipal Commission of Health and Family Planning, 201540029

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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