小柯机器人

美国加州大学圣地亚哥分校Abraham A. Palmer和Sandra Sanchez-Roige研究组合作展望新兴的表型分析策略，并表明其将增进我们对精神遗传学的理解。该项研究成果发表在2020年3月30日出版的《自然-神经科学》杂志上。

在过去的十年中，精神疾病的全基因组关联研究确定了许多重要的基因座。尽管这些研究最初依赖于针对特定疾病确定的研究，但确定策略已逐渐转向基于基因型和异质表型信息的人群研究。

基于人群的研究的优点之一是，除了临床诊断和各种诊断代替（“最小表型”）外，许多人还提供非临床表型，包括假定的内表型，也可用于研究或代替临床诊断的正常功能领域。

通过研究内表型，既可以剖析精神障碍（“分裂”），也可以组合多种表型（“结块”），这可以加强或挑战传统的诊断类别。这样的内表型也可以允许更深入地探索精神疾病的神经生物学。充分利用内表型潜能的协同努力已经逾期。

附：英文原文

Title: Emerging phenotyping strategies will advance our understanding of psychiatric genetics

Author: Sandra Sanchez-Roige, Abraham A. Palmer

Issue&Volume: 2020-03-30

Abstract: Over the last decade, genome-wide association studies of psychiatric disorders have identified numerous significant loci. Whereas these studies initially depended on cohorts ascertained for specific disorders, there has been a gradual shift in the ascertainment strategy toward population-based cohorts for which both genotype and heterogeneous phenotypic information are available. One of the advantages of population-based cohorts is that, in addition to clinical diagnoses and various proxies for diagnoses (‘minimal phenotyping’), many of them also provide non-clinical phenotypes, including putative endophenotypes, that can be used to study domains of normal function in addition to, or instead of, clinical diagnoses. By studying endophenotypes it is possible to both dissect psychiatric disorders (‘splitting’) and to combine multiple phenotypes (‘clumping’), which can either reinforce or challenge traditional diagnostic categories. Such endophenotypes may also permit a deeper exploration of the neurobiology of psychiatric disorders. A coordinated effort to fully exploit the potential of endophenotypes is overdue.

DOI: 10.1038/s41593-020-0609-7

Source: https://www.nature.com/articles/s41593-020-0609-7

Nature Neuroscience：《自然—神经科学》，创刊于1998年。隶属于施普林格·自然出版集团，最新IF：28.771
官方网址：https://www.nature.com/neuro/
投稿链接：https://mts-nn.nature.com/cgi-bin/main.plex