Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montréal Research Center, Montréal, Québec, Canada.
Curr Neurol Neurosci Rep. 2012 Jun;12(3):261-6. doi: 10.1007/s11910-012-0266-7.
Schizophrenia is a major mental disorder characterized by a deep disruption of the thinking process and of emotional response. For many decades, genetics studies have yielded little success in identifying genetic factors responsible for the disease. However, with the recent breakthroughs in genome analysis technologies, the field of the genetics of schizophrenia has progressed a lot in the last years. Both common and rare variants have been successfully associated with the disease and a particular emphasis has been made on rare copy number variations. Recently, a new paradigm linking de novo mutations to the genetic mechanism of schizophrenia has been unravelled. The aim of this review is to discuss the most important genetic studies made in the field to give a general perspective of where to go in the future.
精神分裂症是一种主要的精神障碍,其特征是思维过程和情感反应的深度紊乱。几十年来,遗传学研究在确定导致该疾病的遗传因素方面几乎没有成功。然而,随着基因组分析技术的最新突破,精神分裂症遗传学领域在过去几年中取得了很大进展。常见和罕见变体都已成功与该疾病相关联,并且特别强调了罕见的拷贝数变异。最近,一种将新生突变与精神分裂症遗传机制联系起来的新范式已经被揭示。本文的目的是讨论该领域最重要的遗传研究,以提供对未来发展方向的总体看法。