Gandal Michael J, Haney Jillian R, Parikshak Neelroop N, Leppa Virpi, Ramaswami Gokul, Hartl Chris, Schork Andrew J, Appadurai Vivek, Buil Alfonso, Werge Thomas M, Liu Chunyu, White Kevin P, Horvath Steve, Geschwind Daniel H
Science. 2018 Feb 9;359(6376):693-697. doi: 10.1126/science.aad6469.
The predisposition to neuropsychiatric disease involves a complex, polygenic, and pleiotropic genetic architecture. However, little is known about how genetic variants impart brain dysfunction or pathology. We used transcriptomic profiling as a quantitative readout of molecular brain-based phenotypes across five major psychiatric disorders-autism, schizophrenia, bipolar disorder, depression, and alcoholism-compared with matched controls. We identified patterns of shared and distinct gene-expression perturbations across these conditions. The degree of sharing of transcriptional dysregulation is related to polygenic (single-nucleotide polymorphism-based) overlap across disorders, suggesting a substantial causal genetic component. This comprehensive systems-level view of the neurobiological architecture of major neuropsychiatric illness demonstrates pathways of molecular convergence and specificity.
神经精神疾病的易感性涉及复杂、多基因和多效性的遗传结构。然而,关于基因变异如何导致脑功能障碍或病理变化,我们知之甚少。我们使用转录组分析作为基于大脑分子表型的定量读数,对五种主要精神疾病——自闭症、精神分裂症、双相情感障碍、抑郁症和酒精中毒——与匹配的对照组进行比较。我们确定了这些疾病中共享和独特的基因表达扰动模式。转录失调的共享程度与各疾病间基于单核苷酸多态性的多基因重叠相关,这表明存在重要的因果遗传成分。这种对主要神经精神疾病神经生物学结构的全面系统层面观点揭示了分子趋同和特异性的途径。
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