Quan Cheng, Zhang Xue-Jun
Institute of Dermatology of Anhui Medical University, Hefei 230032, China.
Yi Chuan. 2011 Feb;33(2):100-8. doi: 10.3724/sp.j.1005.2011.00100.
Since 2005, genome-wide association studies (GWAS) have yielded an unprecedented number of complex dis-eases/traits-associated variants. Recently, scientists have focused on performing further analysis by utilizing the genome-wide genotyping data to identify more susceptibility genes of complex diseases/traits. Many strategies and methods have been applied in the following GWAS, such as screening other new susceptibility genes/loci for complex diseases/traits, international collaboration and meta-analysis, fine mapping and resequencing, studies on shared susceptibility genes in different diseases, imputation methods, pathway analysis, gene-gene and gene-environment interaction, and epistasis study and so on. The application of these strategies and methods compensates the limitation of the traditional GWAS and provides new insights into genetics basis of complex diseases/traits. We reviewed these strategies and methods, as well as their difficulty and challenge. Meanwhile, we presented a brief framework of GWAS next step to readers.
自2005年以来，全基因组关联研究（GWAS）已经产生了数量空前的与复杂疾病/性状相关的变异。最近，科学家们专注于利用全基因组基因分型数据进行进一步分析，以识别更多复杂疾病/性状的易感基因。在后续的GWAS中应用了许多策略和方法，例如筛选复杂疾病/性状的其他新的易感基因/位点、国际合作与荟萃分析、精细定位与重测序、不同疾病中共享易感基因的研究、插补方法、通路分析、基因-基因和基因-环境相互作用以及上位性研究等。这些策略和方法的应用弥补了传统GWAS的局限性，并为复杂疾病/性状的遗传学基础提供了新的见解。我们综述了这些策略和方法，以及它们的难点和挑战。同时，我们向读者展示了GWAS下一步的简要框架。
