Redefining the endophenotype concept to accommodate transdiagnostic vulnerabilities and etiological complexity.

Redefining the endophenotype concept to accommodate transdiagnostic vulnerabilities and etiological complexity.
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重新定义内表型概念以适应跨诊断的脆弱性和病因学的复杂性。

DOI:
10.2217/bmm-2017-0002
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发表时间:
2017-09
影响因子:
2.2
通讯作者:
Constantino JN
Constantino JN
中科院分区:
医学4区
文献类型:
--
作者:
Beauchaine TP;Constantino JN

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在精神病理学研究中,内源性表型是一组生物标志物,表明遗传易感性与临床状态无关。到目前为止,一个明确的期望是,内表型是特定的单一疾病。考虑到精神遗传学的最新进展,我们评估了这一期望,认识到转诊断脆弱性特征往往比精神遗传学的临床诊断更有用,并赞赏遗传,神经,激素和环境水平的分析病因的复杂性。我们建议放松内表型的疾病特异性要求,神经功能是最好的行为作为出发点,在搜索内表型,未来的研究应该集中在复杂的精神疾病,其中一些是“表型”与不同的病因的多个内表型的相互作用。
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.
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