Zitman F G
Leids Universiteit Medisch Centrum, afd. Psychiatrie, Postbus 9600, 2300 RC Leiden.
Ned Tijdschr Geneeskd. 2008 Aug 30;152(35):1911-3.
Inheritance plays an undisputedly important role in the development of most psychiatric disorders. However, the genes involved have mostly not yet been identified. In all probability, not a single gene but a large number of genes are involved in each disorder. In psychiatry, a lot is expected from research into the relationship between so-called endophenotypes and genotypes because endophenotypes are more closely related to the genotype and are better defined and quantifiable than the phenotype. Endophenotypes are biological or neuropsychological markers which are (a) associated with the disorder in the population, (b) are themselves heritable, (c) are manifest in the absence of the disorder, (d) cosegregate with the illness in the families and (e) are more prevalent in relatives of people suffering from the disease than in the general population. To date only a few markers have been examined in sufficient detail to know whether they fulfil these criteria. Therefore it is still too early to evaluate the significance ofendophenotypes in psychiatry.
遗传在大多数精神疾病的发展过程中无疑起着重要作用。然而，其中涉及的基因大多尚未被识别。很有可能，每种疾病并非由单个基因而是由大量基因共同作用。在精神病学领域，对所谓内表型与基因型之间关系的研究寄予厚望，因为内表型与基因型联系更为紧密，相较于表型，其定义更明确且可量化。内表型是生物学或神经心理学标志物，它们：（a）在人群中与疾病相关；（b）本身具有遗传性；（c）在无疾病状态下也可显现；（d）在家族中与疾病共分离；（e）在患病者亲属中比在普通人群中更为常见。迄今为止，仅有少数标志物得到了足够详细的研究，以确定它们是否符合这些标准。因此，评估内表型在精神病学中的意义仍为时过早。
