复杂疾病全基因组关联研究:进展,问题和未来  

Genome-Wide Association Studies on Complex Diseases:Progress,Problems and Future Outlook

作　　者：黄文涛[1] 戴甲培[1,2] 陈润生[3] 

机构地区：[1]中南民族大学电子信息工程学院,武汉430074 [2]中南民族大学武汉神经科学和神经工程研究所,武汉430074 [3]中国科学院生物物理研究所,北京100101

出　　处：《中南民族大学学报（自然科学版）》2009年第3期47-57,共11页Journal of South-Central University for Nationalities：Natural Science Edition

基　　金：神经科学和神经工程重点实验室研究基金资助项目(XJS09001);中南民族大学自然科学基金资助项目(YZZ09004)

摘　　要：指出了常见复杂疾病正在全球范围内流行,严重的危害着人类的健康.人们寄希望于利用全基因组关联研究来寻找复杂疾病的易感变异,同时发掘其背后隐藏的生物学机制.随着高速而又经济的高通量技术大量的涌现和不断的成熟,随着大规模数据管理和分析方法的逐步发展和完善,过去的4年中全基因组关联研究经历了一波高速发展的浪潮.对复杂疾病全基因组关联研究国内外进展进行了介绍,特别对两个有代表性的疾病全基因组关联研究进行了具体案例分析和评论,介绍了主要的数据分析方法,对全基因组关联研究中几个核心的问题进行了探讨.最后,对全基因组关联研究的未来进行了展望.Common complex diseases are a global epidemic and are the predominant cause of mortality globally. People hope to utilize whole-genome association studies to identify susceptibility genes and variants contributing to complex diseases, at the same time to explore the biological mechanism behind. With the emergence of many economical and high-speed and hlgh-throughput technologies, with the progressive development and perfection of large-scale data management and analysis methods in the past four years, genome-wide association studies have experienced a wave of high-speed development. This article reviewed the progress of genome-wide association study at home and abroad, analyzed and commented two typical genome-wide association studies on complex diseases as case studies, introduced a number of major analytical methods, explored five core questions in wholegenome association studies. Finally, the future prospect of the whole-genome association studies was briefly discussed.

关 键 词：复杂疾病 全基因组关联 单核苷酸多态 荟萃分析 网络 

分 类 号：Q347[生物学—遗传学]