《中国康复理论与实践》 ›› 2015, Vol. 21 ›› Issue (12): 1365-1369.

• 国际会议报道 •    下一篇

阿尔茨海默病的基因组学研究进展

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

  1. 作者单位: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:2015-12-25 发布日期:2015-12-25

Research Progress of Genetics of Alzheimer's Disease (review)

WANG Mei-qin1, YANG Kai-bing1, JI Ran1, PANG Qing-hua1, ZHANG Da-bao1,2, 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:2015-12-25 Online:2015-12-25

摘要: 本文主要介绍遗传因素参与阿尔茨海默病(AD)发病机制的研究进展,阐述近年来国内外研究较多的与AD发病机制相关的易感基因,通过对易感位点的进一步研究,尤其是通过旁路分析可以更好地认识迟发性阿尔茨海默病(LOAD)的发生、进展,从而发现重要的枢纽基因,为临床预防、诊断和治疗提供靶点。由于遗传变异信息的分散性,需要借助详细的文献、网上搜索和一些生物信息学分析方法,归纳 LOAD的致病基因和信号转导通路。本文以 3个常用数据库为来源,采用多手段、多途径的分析和挖掘数据方法,充分利用已有AD数据资源,为AD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, 单核苷酸多肽性, 通路, 数据库, 综述

Abstract: Genetic factors play an important role in the development of Alzheimer's disease (AD). This article mainly introduced some genes, which have been reported in recent years, predisposing to different aspects of AD. The occurrence and progress of the late onset Alzheimer's disease (LOAD) can be better understood through further study of the susceptibility loci, especially by using the pathway analysis, and the important hub genes can be found so as to provide targets for clinical prevention, diagnosis and treatment. Due to the dispersion of genetic variant information, it needs detailed literature, online search and some bioinformatics methods to analyze the causative genes and signaling pathways related to LOAD. 3 databases were took as recourses, and they were analyzed with multi-means and multi-ways of analysis and data mining methods, in order to provide theoretical basis for further study and clinical treatment of AD genetics.

Key words: Alzheimer's disease, single nucleotide polymorphism, pathway, database, review