Endophenotypes: the molecular biology point of view

作者：Belzeaux R^*; Ibrahim E C; Cermolacce M; Fakra E; Azorin J M

来源：Encephale-Revue de Psychiatrie Clinique Biologique et Therapeutique, 2012, 38: S62-S66.

• Heritability
• Phenocopy
• Psychiatric disorders

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.

• 出版日期2012-12