Department of Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Nat Hum Behav. 2021 Jun;5(6):686-694. doi: 10.1038/s41562-021-01110-y. Epub 2021 May 13.
Genome-wide association studies on human behavioural traits are producing large amounts of polygenic signals with significant predictive power and potentially useful biological clues. Behavioural traits are more distal and are less directly under biological control compared with physical characteristics, which makes the associated genetic effects harder to interpret. The results of genome-wide association studies for human behaviour are likely made up of a composite of signals from different sources. While sample sizes continue to increase, we outline additional steps that need to be taken to better delineate the origin of the increasingly stronger polygenic signals. In addition to genetic effects on the traits themselves, the major sources of polygenic signals are those that are associated with correlated traits, environmental effects and ascertainment bias. Advances in statistical approaches that disentangle polygenic effects from different traits as well as extending data collection to families and social circles with better geographical coverage will probably contribute to filling the gap of knowledge between genetic effects and behavioural outcomes.
全基因组关联研究在人类行为特征上产生了大量具有显著预测能力和潜在有用生物学线索的多基因信号。与身体特征相比，行为特征更具间接性，也更少受到生物控制，这使得相关的遗传效应更难解释。人类行为的全基因组关联研究结果可能是由来自不同来源的信号组合而成。随着样本量的不断增加，我们需要采取额外的步骤，以更好地区分日益增强的多基因信号的来源。除了对特征本身的遗传影响外，多基因信号的主要来源是那些与相关特征、环境影响和确定偏差相关的信号。在将多基因效应从不同特征中分离出来的统计方法上的进展，以及将数据收集扩展到具有更好地理覆盖范围的家庭和社交圈，可能有助于填补遗传效应和行为结果之间的知识空白。
