Endophenotype: a conceptual analysis.
Endophenotype: a conceptual analysis.
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DOI：
10.1038/mp.2010.8
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发表时间：
2010-08
影响因子：
11
通讯作者：
Neale, M. C.
中科院分区：
文献类型：
--
作者：
Kendler, K. S.;Neale, M. C.
本文提供了一个概念分析的内表型（EP）结构是有越来越重要的作用，在遗传策略揭示精神疾病（pd）的病因。通过通径分析的方法，我们提出了六个要点。首先，区分EP的中介模型和责任指数（或“风险指标”）模型是很重要的，因为只有前者需要PD的遗传风险通过EP。其次，EP和PD的相对可靠性可以在结果的解释中发挥关键作用。忽略它们可能会导致严重的推理错误。第三，我们需要考虑EP和PD之间的双向关系，以及EP对PD的遗传影响仅部分介导的可能性。第四，EP模型通常假设所有影响EP的遗传效应也会改变PD的风险。然而，在对EP和PD的遗传影响中，也有可能有些只影响EP，有些只影响PD，有些两者都有。第五，我们还应该考虑包含多个EPs和pd的模型，这些模型可以通过多元遗传方法很好地捕获。第六，每股收益也可能反映环境对pd风险的影响。EP概念对pd的病因学研究具有重要的潜在教训，可以通过将其视为更广泛的多变量遗传模型集的特殊情况来优化，这些模型可以使用当前可用的方法进行拟合。
This paper provides a conceptual analysis of the endophenotype (EP) construct that is having an increasing role in genetic strategies for unraveling the etiology of psychiatric disorders (PDs). We make six major points illustrated through the method of path analysis. First, it is important to distinguish between mediational and liability-index (or ‘risk indicator’) models for EP, as only the former requires genetic risk for PD to pass through EP. Second, the relative reliability of EP and PD can have a critical role in the interpretation of results. Ignoring them can lead to substantial errors of inference. Third, we need to consider bidirectional relationships between an EP and a PD, and the possibility that genetic effects on PD are only partially mediated by EP. Fourth, EP models typically assume that all genetic effects that have an impact on EP also alter risk for PD. However, among the genetic influences on EP and PD, it is also plausible that some will influence only EP, some only PD and some both. Fifth, we should also consider models incorporating multiple EPs and PDs, which can be well captured by multivariate genetic methods. Sixth, EPs may also reflect the impact of the environment on risk for PDs. The EP concept has important potential lessons for etiological research in PDs that can be optimized by considering it as a special case of a broader set of multivariate genetic models, which can be fitted using currently available methodology.
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