Department of Psychology, The Ohio State University, 225 Psychology Building, 1835 Neil Avenue, Columbus, Ohio 43210, USA.
Departments of Psychiatry & Pediatrics, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA.
Biomark Med. 2017 Sep;11(9):769-780. doi: 10.2217/bmm-2017-0002. Epub 2017 Sep 11.
In psychopathology research, endophenotypes are a subset of biomarkers that indicate genetic vulnerability independent of clinical state. To date, an explicit expectation is that endophenotypes be specific to single disorders. We evaluate this expectation considering recent advances in psychiatric genetics, recognition that transdiagnostic vulnerability traits are often more useful than clinical diagnoses in psychiatric genetics, and appreciation for etiological complexity across genetic, neural, hormonal and environmental levels of analysis. We suggest that the disorder-specificity requirement of endophenotypes be relaxed, that neural functions are preferable to behaviors as starting points in searches for endophenotypes, and that future research should focus on interactive effects of multiple endophenotypes on complex psychiatric disorders, some of which are 'phenocopies' with distinct etiologies.
在精神病理学研究中，内表型是生物标志物的一个子集，它独立于临床状态表明遗传易感性。迄今为止，人们明确期望内表型是特定于单一疾病的。我们考虑到精神遗传学的最新进展来评估这一期望，认识到跨诊断脆弱性特征通常比精神遗传学中的临床诊断更有用，以及对遗传、神经、激素和环境分析水平的病因复杂性的认识。我们建议放宽对内表型的疾病特异性要求，将神经功能作为寻找内表型的起点，而不是行为，并且未来的研究应该集中在多个内表型对复杂精神疾病的相互作用上，其中一些是具有不同病因的“拟表型”。
