Belzeaux R, Ibrahim E C, Cermolacce M, Fakra E, Azorin J M
Pôle de Psychiatrie Universitaire Solaris, Hôpital Sainte Marguerite, APHM, 13274 cedex 9, Marseille, France.
Encephale. 2012 Dec;38 Suppl 3:S62-6. doi: 10.1016/S0013-7006(12)70079-9.
Endophenotypes are proposed for a better understanding of the molecular substrate underlying psychiatric disorders vulnerability. In this review, we discuss key points of the definition of endophenotypes from the molecular biology point of view. First, we examine the concept of heritability of endophenotype, which does not directly explain the molecular mechanisms responsible for the studied disorder Indeed, we discuss the necessity to better decipher the functional role of polymorphisms associated to endophenotypes, especially if those endophenotypes would be assigned a clinical and biological value. The complexity of endophenotypes definition and use in psychiatric research is also illustrated by the complexity of the human genome organization and gene networks as well as by the gene x environment interactions and also the possible existence of phenocopies.
提出内表型是为了更好地理解精神疾病易感性背后的分子基础。在本综述中，我们从分子生物学角度讨论内表型定义的要点。首先，我们研究内表型的遗传力概念，它并不能直接解释导致所研究疾病的分子机制。实际上，我们讨论了更好地解读与内表型相关的多态性的功能作用的必要性，特别是如果这些内表型将被赋予临床和生物学价值的话。人类基因组组织和基因网络的复杂性、基因与环境的相互作用以及拟表型的可能存在也说明了内表型定义及其在精神病学研究中应用的复杂性。
