Williams Nigel M, O'Donovan Michael C, Owen Michael J
Department of Psychological Medicine, Cardiff University, UK.
Schizophr Bull. 2005 Oct;31(4):800-5. doi: 10.1093/schbul/sbi061. Epub 2005 Sep 15.
Over recent years the gene DTNBP1 (chromosome 6p24-22) has emerged as one of the most promising candidate genes for schizophrenia. In this article, we review the current genetic evidence that implicates DTNBP1 as a schizophrenia-susceptibility gene. While there is now impressive support from genetic association studies, it is important to remain aware that the actual DTNBP1 susceptibility variants have not been identified. While functional analyses have allowed us to speculate their likely function, only when they are identified will we be able to confidently specify the type of altered gene function that is relevant to schizophrenia pathogenesis. This we hope will then open up new vistas for neurobiological research, allowing us to study the exact contribution of DTNBP1 in schizophrenia, its relationships with various aspects of the phenotype, and the potential of epistatic interactions with other genes, as well as functional interactions between the gene products.
近年来，基因DTNBP1（位于6号染色体p24 - 22区域）已成为精神分裂症最具潜力的候选基因之一。在本文中，我们综述了当前将DTNBP1视作精神分裂症易感基因的遗传学证据。虽然目前遗传关联研究提供了有力支持，但必须意识到，DTNBP1实际的易感变异尚未被确定。尽管功能分析使我们能够推测其可能的功能，但只有在确定这些变异后，我们才能自信地明确与精神分裂症发病机制相关的基因功能改变类型。我们希望这将为神经生物学研究开辟新的前景，使我们能够研究DTNBP1在精神分裂症中的具体作用、它与表型各方面的关系、与其他基因上位性相互作用的潜力，以及基因产物之间的功能相互作用。
