Guinjoan Salvador M
Fundación FLENI. CONICET.
Vertex. 2016 Sep;XXVII(129):393-396.
We review the concept of endophenotype, and its relationship with related terms in use in the scientific literature, including "biomarker" and "intermediate phenotype". We then explain the importance of the concept in current psychiatry research. Specifically, we focus in the potential importance of endophenotypes in both disentangling the genetic causes, and improving the dimensional and pathophysiologic definition, of psychiatric nosological categories. After delineating which types of variables could constitute valid endophenotypes, we describe efforts in defining neurobiological signatures of social cognitive deficits in schizophrenia as an example with potential heuristic value.
我们回顾了内表型的概念,及其与科学文献中使用的相关术语的关系,包括“生物标志物”和“中间表型”。然后我们解释了这一概念在当前精神病学研究中的重要性。具体而言,我们重点关注内表型在理清精神疾病分类的遗传原因以及改善其维度和病理生理学定义方面的潜在重要性。在划定哪些类型的变量可以构成有效的内表型之后,我们以定义精神分裂症社会认知缺陷的神经生物学特征的研究为例进行描述,该研究具有潜在的启发价值。