Genes for schizophrenia and bipolar disorder? Implications for psychiatric nosology
Genes for schizophrenia and bipolar disorder? Implications for psychiatric nosology
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DOI：
10.1093/schbul/sbj033
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发表时间：
2006-01-01
影响因子：
6.6
通讯作者：
Owen, MJ
中科院分区：
文献类型：
--
作者：
Craddock, N;O'Donovan, MC;Owen, MJ
精神病学研究，包括寻找易感基因，都是在精神分裂症和双相情感障碍是具有不同潜在病因的独立疾病实体的假设下进行的。这些代表了埃米尔·克雷佩林对所谓的“功能性”精神病的传统二分法分类，并形成了现代诊断实践的基础。然而，许多精神病学研究领域的发现并不完全符合这一模型。特别是，从遗传学研究中出现的发现模式显示，越来越多的证据表明，在传统的分类类别中，遗传易感性存在重叠，包括DAOA（G72），DTNBP 1（dysbindin），COMT，BDNF，DISC 1和NRG 1的相关发现。新出现的证据表明，基因型和精神病理学之间可能存在相对特定的关系。例如，DISC 1和NRG 1可能赋予对具有精神分裂症和躁狂症的混合特征的疾病形式的易感性。基因型-表型关系的阐明尚处于早期阶段，但目前的研究结果强调需要考虑其他方法来分类和概念化精神病学研究，而不是继续严重依赖传统的Kraepelinian二分法。随着精神病易感基因在未来几年内被鉴定和表征，这将对我们对疾病病理生理学的理解产生重大影响，并将导致精神病学分类和临床实践的变化。
It has been conventional for psychiatric research, including the search for predisposing genes, to proceed under the assumption that schizophrenia and bipolar disorder are separate disease entities with different underlying etiologies. These represent Emil Kraepelin's traditional dichotomous classification of the so-called "functional" psychoses and form the basis of modern diagnostic practice. However, findings emerging from many fields of psychiatric research do not fit well with this model. In particular, the pattern of findings emerging from genetic studies shows increasing evidence for an overlap in genetic susceptibility across the traditional classification categories-including association findings at DAOA(G72), DTNBP1 (dysbindin), COMT, BDNF, DISC1, and NRG1. The emerging evidence suggests the possibility of relatively specific relationships between genotype and psychopathology. For example, DISC1 and NRG1 may confer susceptibility to a form of illness with mixed features of schizophrenia and mania. The elucidation of genotype-phenotype relationships is at an early stage, but current findings highlight the need to consider alternative approaches to classification and conceptualization for psychiatric research rather than continuing to rely heavily on the traditional Kraepelinian dichotomy. As psychosis susceptibility genes are identified and characterized over the next few years, this will have a major impact on our understanding of disease pathophysiology and will lead to changes in classification and the clinical practice of psychiatry.