Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Nat Rev Genet. 2010 May;11(5):356-66. doi: 10.1038/nrg2760.
Genome-wide association (GWA) studies have identified a large number of SNPs associated with disease phenotypes. As most GWA studies have been performed in populations of European descent, this Review examines the issues involved in extending the consideration of GWA studies to diverse worldwide populations. Although challenges exist with issues such as imputation, admixture and replication, investigation of a greater diversity of populations could make substantial contributions to the goal of mapping the genetic determinants of complex diseases for the human population as a whole.
全基因组关联 (GWA) 研究已经确定了大量与疾病表型相关的单核苷酸多态性 (SNP)。由于大多数 GWA 研究都是在欧洲血统的人群中进行的,因此本综述探讨了将 GWA 研究扩展到世界各地不同人群中所涉及的问题。尽管在诸如推断、混合和复制等问题上存在挑战,但对更多样化的人群进行研究可以为整个人类群体绘制复杂疾病遗传决定因素图谱的目标做出重大贡献。