Department of Ecology and Evolutionary Biology, University of Colorado Boulder, Boulder, Colorado, USA.
Institute for Behavioral Genetics, Boulder, Colorado, USA.
Genes Brain Behav. 2023 Dec;22(6):e12851. doi: 10.1111/gbb.12851. Epub 2023 May 31.
Anxiety disorders are common and can be debilitating, with effective treatments remaining hampered by an incomplete understanding of the underlying genetic etiology. Improvements have been made in understanding the genetic influences on mouse behavioral models of anxiety, yet it is unclear the extent to which genes identified in these experimental systems contribute to genetic variation in human anxiety phenotypes. Leveraging new and existing large-scale human genome-wide association studies, we tested whether sets of genes previously identified in mouse anxiety-like behavior studies contribute to a range of human anxiety disorders. When tested as individual genes, 13 mouse-identified genes were associated with human anxiety phenotypes, suggesting an overlap of individual genes contributing to both mouse models of anxiety-like behaviors and human anxiety traits. When genes were tested as sets, we did identify 14 significant associations between mouse gene sets and human anxiety, but the majority of gene sets showed no significant association with human anxiety phenotypes. These few significant associations indicate a need to identify and develop more translatable mouse models by identifying sets of genes that "match" between model systems and specific human phenotypes of interest. We suggest that continuing to develop improved behavioral paradigms and finer-scale experimental data, for instance from individual neuronal subtypes or cell-type-specific expression data, is likely to improve our understanding of the genetic etiology and underlying functional changes in anxiety disorders.
焦虑障碍很常见,可能会使人衰弱,而有效的治疗方法仍然受到对潜在遗传病因学认识不完整的阻碍。人们对影响小鼠焦虑行为模型的遗传因素的理解已经有所提高,但尚不清楚在这些实验系统中确定的基因在多大程度上导致了人类焦虑表型的遗传变异。利用新的和现有的大规模人类全基因组关联研究,我们测试了先前在小鼠焦虑样行为研究中确定的基因集合是否与一系列人类焦虑障碍有关。当作为单个基因进行测试时,13 个在小鼠中确定的基因与人类的焦虑表型相关,这表明单个基因在促进小鼠焦虑样行为和人类焦虑特征方面存在重叠。当作为基因集合进行测试时,我们确实在小鼠基因集合和人类焦虑之间发现了 14 个显著关联,但大多数基因集合与人类焦虑表型没有显著关联。这些少数显著关联表明,需要通过识别模型系统和特定人类感兴趣的表型之间“匹配”的基因集合,来确定和开发更具可转化性的小鼠模型。我们建议,通过识别模型系统和特定人类感兴趣的表型之间“匹配”的基因集合,来识别和开发更具可转化性的小鼠模型,继续开发改进的行为范式和更精细的实验数据,例如来自单个神经元亚型或细胞类型特异性表达数据,可能会提高我们对遗传病因学和焦虑障碍中潜在功能变化的理解。