McCarthy Mark I, Abecasis Gonçalo R, Cardon Lon R, Goldstein David B, Little Julian, Ioannidis John P A, Hirschhorn Joel N
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Nat Rev Genet. 2008 May;9(5):356-69. doi: 10.1038/nrg2344.
The past year has witnessed substantial advances in understanding the genetic basis of many common phenotypes of biomedical importance. These advances have been the result of systematic, well-powered, genome-wide surveys exploring the relationships between common sequence variation and disease predisposition. This approach has revealed over 50 disease-susceptibility loci and has provided insights into the allelic architecture of multifactorial traits. At the same time, much has been learned about the successful prosecution of association studies on such a scale. This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.
过去一年见证了在理解许多具有生物医学重要性的常见表型的遗传基础方面取得的重大进展。这些进展是系统的、有力的全基因组调查的结果，这些调查探索了常见序列变异与疾病易感性之间的关系。这种方法已经揭示了50多个疾病易感位点，并为多因素性状的等位基因结构提供了见解。与此同时，人们对如此大规模的关联研究的成功实施也有了很多了解。本综述重点介绍了所获得的知识，界定了新出现的共识领域，并描述了研究人员在寻求更完整地描述感兴趣的生物医学性状的易感性结构以及将所收集的信息转化为临床管理改进时仍然面临的挑战。
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