Krebs Marie-Odile
Service de psychiatrie INSERM E 0117-Paris V Hôpital Sainte-Anne 75674 Paris.
Rev Prat. 2002 Jun 1;52(11):1208-11.
It is now well demonstrated from family, adoption or twin studies, that genetic factors are involved in schizophrenia. Yet, the nature of these factors remains unknown. The disappointing results of the classical linkage studies are explained by the complex non mendelian inheritance, involving several genes interacting with environmental and/or maturation processes, and the heterogeneity of the clinical expression. The identification of genes having an influence on schizophrenia requires thus new strategies including statistical analysis with no assumption on the inheritance mode (non parametric methods) and the dissection of the heterogeneous syndrome using endophenotypes and/or relevant clinical features. Beside the hypothesis of a dysfunctional neurotransmission in schizophrenia (i.e. dopaminergic), evidence suggests that genes involved in neurodevelopment could also be candidate. The observation of caryotypic anomalies could also lead to new candidate regions or genes.
目前,通过家族、收养或双胞胎研究已充分证明,遗传因素与精神分裂症有关。然而,这些因素的本质仍然未知。经典连锁研究令人失望的结果可归因于复杂的非孟德尔遗传,涉及多个基因与环境和/或成熟过程相互作用,以及临床表型的异质性。因此,鉴定对精神分裂症有影响的基因需要新的策略,包括不假设遗传模式的统计分析(非参数方法),以及使用内表型和/或相关临床特征剖析异质综合征。除了精神分裂症中神经递质功能失调的假说(即多巴胺能)外,有证据表明参与神经发育的基因也可能是候选基因。对染色体异常的观察也可能导致新的候选区域或基因。