全基因组关联研究及其在眼科领域的应用现状  

Present status of genome-wide association studies and its applications in ophthalmology

作　　者：冯蕾[1] 杨亚波[1] 

机构地区：[1]浙江大学医学院附属第二医院眼科,杭州310009

出　　处：《中华眼科杂志》2010年第12期1143-1147,共5页Chinese Journal of Ophthalmology

摘　　要：全基因组关联研究是在全基因组范围内对众多的单核苷酸多态性标记进行检测,分析其与疾病或可测性状之间的关系.目前已经检测出多种遗传变异与常见疾病之间有关联,其中不少检测技术已先后在眼科领域广泛应用,这为眼科复杂疾病的遗传研究提供了有效手段.基于此,有必要就目前有关全基因组关联研究的慨念、发生和发展、技术优劣和在眼科领域的应用现状及意义进行综述.Genome-wide association studies （GWAS） assay a dense set of single-nucleotide polymorphisms （SNPs） in whole genome and relate them to various diseases and measurable traits. The completion of Human Genome Project and Human Haplotype Map Project has made this approach possible.Genome-wide association studies have identified a large number of robust associations between genetic variants and common diseases. Now, application of GWAS in eye diseases are actively being pursued and these studies provide an effective methodology for studying the genetic aspects of ophthalmic complex diseases. In this paper, we describe the current understanding of concept, background, development,advantages and disadvantages of GWAS, as well as applications of GWAS in the field of ophthalmology.

关 键 词：基因组 眼疾病 遗传标记 

分 类 号：R686[医药卫生—骨科学]