Pries Lotta-Katrin, Gülöksüz Sinan, Kenis Gunter
Department of Psychiatry & Neuropsychology, School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA.
Adv Exp Med Biol. 2017;978:211-236. doi: 10.1007/978-3-319-53889-1_12.
Schizophrenia is a highly heritable psychiatric condition that displays a complex phenotype. A multitude of genetic susceptibility loci have now been identified, but these fail to explain the high heritability estimates of schizophrenia. In addition, epidemiologically relevant environmental risk factors for schizophrenia may lead to permanent changes in brain function. In conjunction with genetic liability, these environmental risk factors-likely through epigenetic mechanisms-may give rise to schizophrenia, a clinical syndrome characterized by florid psychotic symptoms and moderate to severe cognitive impairment. These pathophysiological features point to the involvement of epigenetic processes. Recently, a wave of studies examining aberrant DNA modifications in schizophrenia was published. This chapter aims to comprehensively review the current findings, from both candidate gene studies and genome-wide approaches, on DNA methylation changes in schizophrenia.
精神分裂症是一种具有高度遗传性的精神疾病，表现出复杂的表型。目前已鉴定出众多遗传易感性位点，但这些位点无法解释精神分裂症的高遗传率估计值。此外，与精神分裂症流行病学相关的环境风险因素可能导致脑功能的永久性改变。与遗传易感性相结合，这些环境风险因素——可能通过表观遗传机制——可能引发精神分裂症，这是一种以明显的精神病性症状和中度至重度认知障碍为特征的临床综合征。这些病理生理特征表明表观遗传过程参与其中。最近，发表了一系列研究精神分裂症中异常DNA修饰的文章。本章旨在全面综述来自候选基因研究和全基因组方法的关于精神分裂症中DNA甲基化变化的当前研究结果。
