Department of Public Health, Hjelt Institute, University of Helsinki, Helsinki, Finland.
J Intern Med. 2012 Nov;272(5):440-8. doi: 10.1111/j.1365-2796.2012.02587.x. Epub 2012 Oct 11.
Since 2006, the advent of increasingly larger genome-wide association studies and their meta-analyses have led to numerous, replicated findings of genetic polymorphisms associated with many diseases and traits. Early studies suggested that the identified loci generally accounted for a small fraction of the genetic variance estimated from twin and family studies. This led to the concept of 'missing heritability'. Here, the progress in accounting for a greater proportion of the variance is reviewed. In particular, gene-environment interactions can, for some traits and in certain circumstances, explain part of this missing heritability.
自 2006 年以来,越来越多的全基因组关联研究及其荟萃分析的出现,导致了许多与许多疾病和特征相关的遗传多态性的重复发现。早期的研究表明,从双胞胎和家族研究中估计的遗传变异中,所确定的基因座通常只占很小一部分。这就产生了“遗传缺失”的概念。在这里,我们回顾了在解释更大比例方差方面的进展。特别是,对于某些特征和在某些情况下,基因-环境相互作用可以解释部分遗传缺失。