The small effect size of most individual risk factors for psychiatric disorders likely reflects biological heterogeneity and diagnostic imprecision, which has encouraged genetic studies of intermediate biological phenotypes that are closer to the molecular effects of risk genes than are the clinical symptoms. Neuroimaging-based intermediate phenotypes have emerged as particularly promising because they map risk associated gene effects onto physiological processes in brain that are altered in patients and in their healthy relatives. Recent evidence using this approach has elucidated discrete, dissociable biological mechanisms of risk genes at the level of neural circuitries, and their related cognitive functions. This approach may greatly contribute to our understanding of the genetics and pathophysiology of psychiatric disorders.

中文翻译：

---

精神疾病的中间表型。


大多数精神疾病个体危险因素的影响较小，可能反映了生物异质性和诊断不精确性，这鼓励了对中间生物表型的遗传学研究，这些中间生物表型比临床症状更接近风险基因的分子效应。基于神经影像的中间表型特别有前途，因为它们将风险相关的基因效应映射到大脑中的生理过程上，而这些生理过程在患者及其健康亲属中发生了改变。最近使用这种方法的证据阐明了神经回路水平上风险基因的离散的、可分离的生物学机制及其相关的认知功能。这种方法可能极大地有助于我们对精神疾病的遗传学和病理生理学的理解。