School of Biology and Center for Integrative Genomics, 770 State Street, Georgia Institute of Technology, Atlanta, Georgia 30332, USA. greg.gibson@biology. gatech.edu
Nat Rev Genet. 2012 Jan 18;13(2):135-45. doi: 10.1038/nrg3118.
Genome-wide association studies have greatly improved our understanding of the genetic basis of disease risk. The fact that they tend not to identify more than a fraction of the specific causal loci has led to divergence of opinion over whether most of the variance is hidden as numerous rare variants of large effect or as common variants of very small effect. Here I review 20 arguments for and against each of these models of the genetic basis of complex traits and conclude that both classes of effect can be readily reconciled.
全基因组关联研究极大地提高了我们对疾病风险遗传基础的理解。事实上,它们往往不能确定超过特定因果位置的一部分,这导致了关于大多数方差是隐藏在大量具有较大效应的罕见变体中还是隐藏在非常小效应的常见变体中的分歧。在这里,我回顾了这两种复杂性状遗传基础模型的 20 个论据,并得出结论,这两类效应都很容易协调。