《中国康复理论与实践》

《中国康复理论与实践》 ›› 2015, Vol. 21 ›› Issue (10): 1117-1123.

• 基础研究 •    下一篇

基于数据整合策略挖掘阿尔茨海默病易感基因

王美琴 1，杨铠冰 1，冀燃 1，庞清华 1，张大保 1，张敏 1,2   

  1. 1.首都医科大学生物医学工程学院生物信息学系，北京市 100069；2.北京脑重大疾病研究院阿尔茨海默病研究所，北京市100069。
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2015-10-25 发布日期:2015-10-25

Mining Alzheimer's Disease Susceptible Genes Based on Data Integration Strategy

WANG Mei-qin1, YANG Kai-bing1, JI Ran1, PANG Qing-hua1, ZHANG Da-bao1, ZHANG Min1,2   

  1. 1. Department of Bioinformatics, School of Biomedical Engineering, Capital Medical University, Beijing 100069, China; 2. Alzheimer's Disease Center, Beijing Institute for Brain Disorders, Capital Medical University, Beijing 100069, China
  • Received:1900-01-01 Revised:1900-01-01 Published:2015-10-25 Online:2015-10-25

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摘要： 目的 阐明阿尔茨海默病(AD)已知致病基因的作用与新发现的相关基因，对研究阿尔茨海默病的发病机理有非常重要的作用，为临床预防、诊断和治疗提供靶点。方法 从网站数据库(OMIM、AlzGene)搜集有关阿尔茨海默病的基因数据信息；运用多种致病基因预测工具(Endeavour、Gene Prospector、GLAD4U、ProphNet)进行生物分析，从而预测致病基因，并通过GENE、PubMed数据库进行结果验证。结果 从两个数据库中直接获取阿尔茨海默病致病基因，利用 4种工具软件获取阿尔茨海默病相关基因(筛选出基因出现次数≥3的基因)，将数据信息进行整合，得到一个含有25个基因的列表，这些基因包括CALHM1、ABCA7、A2M、CLU、SORL1、HFE、CD2AP、APP、ACE、PICALM、APOE、NOS3、MS4A6A、PLD3、CR1、ADAM10、MS4A4E、BLMH、PSEN1、CD33、PSEN2、MPO、APBB2、BIN1和 PLAU。结论 CALHM1、ABCA7、A2M、CLU等基因与阿尔茨海默病有一定的相关性，为阿尔茨海默病基因学的进一步研究和临床治疗方面的应用提供理论依据。

关键词: 阿尔茨海默病, 数据库资源, 易感基因, 基因预测工具

Abstract: Objective To clarify the role of the known genes and new discovered genes, which were important to the pathogenesis of Alzheimer's disease (AD), in order to provide targets for clinical prevention, diagnosis and treatment. Methods In order to predict AD susceptible genes, the website databases (OMIM, AlzGene) and a variety of pathogenic gene prediction tools such as Endeavour, Gene Prospector, GLAD4U and ProphNet were used to make biological analysis. Results Disease-causing genes were directly obtained from the OMIM and Alzgene databases, and related genes were collected by 4 kinds of tools (select gene whose frequency was 3 or more). The data were shared and a list of 25 genes was gotten. These genes were CALHM1、 ABCA7、 A2M、 CLU、 SORL1、 HFE、 CD2AP、 APP、 ACE、 PICALM、 APOE、 NOS3、 MS4A6A、 PLD3、 CR1、 ADAM10、 MS4A4E、 BLMH、 PSEN1、 CD33、 PSEN2、 MPO、 APBB2、 BIN1 and PLAU. Conclusion CALHM1, ABCA7, A2M and CLU, etc., have a certain correlation with AD, which provide theoretical basis for further research of AD genics and clinical treatment.

Key words: Alzheimer's disease, database resource, susceptible gene, gene prediction tool