分析基因组关联研究数据识别阿尔茨海默和帕金森疾病相关的风险位点和遗传通路

项目名称： 分析基因组关联研究数据识别阿尔茨海默和帕金森疾病相关的风险位点和遗传通路

项目编号： No.81471294

项目类型： 面上项目

立项/批准年度： 2015

项目学科： 医药、卫生

项目作者： 李克深

作者单位： 暨南大学

项目金额： 80万元

中文摘要： 阿尔茨海默病 （Alzheimer's disease，AD）和帕金森病（Parkinson's disease， PD)分别是第一和第二种常见的神经系统退行性疾病。它们复杂的遗传结构使得传统的遗传分析更加困难。近来，基因组范围的关联研究逐步兴起并用来识别常见的AD和PD变异。这些新找到的位点进一步加快了我们对这两种疾病机制的理解。我们注意到，前期的研究很少有报道这两种疾病共有的位点。本研究中，我们认为AD和PD可能会有共享的疾病位点和遗传通路。为了证实这一观点，我们搜集、识别目前研究报道的所有的AD和PD位点和遗传通路。我们利用中国人群的数据，进一步验证这些共享的位点。我们利用GEO中的数据进一步探索共有遗传通路是否在AD和PD个体中出现显著的失调。我们相信这一结果会加速我们对AD和PD共享疾病机制的理解。同时通过识别失调的遗传通路，对AD和PD的早期诊断和预防起到重要作用。

中文关键词： 阿尔茨海默病；帕金森病；遗传位点；遗传通路；生物信息学

英文摘要： Alzheimer's disease (AD) and Parkinson's disease (PD) are the most and the second common and complex neurodegenerative diseases in the elderly, respectively. The complex genetic architecture of AD and PD makes genetic analysis difficult. Recently, genome-wide association studies (GWAS) have been widely used to investigate AD and PD common variants. These newly identified loci have yielded important new insights into the genetic mechanisms of AD and PD. However, few shared genetic loci were reported AD and PD. In this study, we think that there may be shared risk loci and pathways in AD and PD. In order to confirm this view, we collected and identified all the identified AD and PD risk loci and pathways by article search and pathway analysis of AD and PD GWAS. We verified these shared risk loci using the data from Chinese Han. Meanwhile, we used the data from GEO to investigate whether these genetic pathways are deregulated in AD cases. We believe that our results may advance the understanding of AD and PD mechanisms and will be very useful for future AD and PD early diagnosis and prevention.

英文关键词： Alzheimer's disease;Parkinson's disease;genetic loci;genetic pathways;bioinformatics