Dehghan Abbas
Department of Epidemiology and Biostatistics, Imperial College London, London, UK.
Methods Mol Biol. 2018;1793:37-49. doi: 10.1007/978-1-4939-7868-7_4.
Genetic association studies have made a major contribution to our understanding of the genetics of complex disorders over the last 10 years through genome-wide association studies (GWAS). In this chapter, we review the key concepts that underlie the GWAS approach. We will describe the "common disease, common variant" theory, and will review how we finally afforded to capture the common variance in genome to make GWAS possible. Finally, we will go over technical aspects of GWAS such as genotype imputation, epidemiologic designs, analysis methods, and considerations such as genomic inflation, multiple testing, and replication.
在过去十年中,基因关联研究通过全基因组关联研究(GWAS),为我们理解复杂疾病的遗传学做出了重大贡献。在本章中,我们将回顾GWAS方法所基于的关键概念。我们将描述“常见疾病,常见变异”理论,并回顾我们最终如何能够捕捉基因组中的常见变异,从而使GWAS成为可能。最后,我们将探讨GWAS的技术方面,如基因型填充、流行病学设计、分析方法,以及诸如基因组膨胀、多重检验和重复验证等注意事项。