a Department of Psychiatry, Psychotherapy, and Psychosomatics , Martin Luther University of Halle-Wittenberg , Halle , Germany.
b Department of Psychiatry , Ludwig-Maximilians-University Munich , Munich , Germany.
World J Biol Psychiatry. 2017 Oct;18(7):492-505. doi: 10.1080/15622975.2016.1268715. Epub 2017 Jan 23.
Schizophrenia is a severe psychiatric disease affecting about 1% of the general population. The relative contribution of genetic factors has been estimated to be up to 80%. The mode of inheritance is complex, non-Mendelian, and in most cases involving the combined action of large numbers of genes.
This review summarises recent efforts to identify genetic variants associated with schizophrenia detected, e.g., through genome-wide association studies, studies on copy-number variants or next-generation sequencing.
A large, new body of evidence on genetics of schizophrenia has accumulated over recent years. Many new robustly associated genetic loci have been detected. Furthermore, there is consensus that at least a dozen microdeletions and microduplications contribute to the disease. Genetic overlap between schizophrenia, other psychiatric disorders, and neurodevelopmental syndromes raised new questions regarding the current classification of psychiatric and neurodevelopmental diseases.
Future studies will address especially the functional characterisation of genetic variants. This will hopefully open the doors to our understanding of the pathophysiology of schizophrenia and other related diseases. Complementary, integrated systems biology approaches to genomics, transcriptomics, proteomics and metabolomics may also play crucial roles in enabling a precision medicine approach to the treatment of individual patients.
精神分裂症是一种严重的精神疾病，影响着大约 1%的普通人群。遗传因素的相对贡献估计高达 80%。遗传方式复杂，非孟德尔遗传，在大多数情况下涉及大量基因的共同作用。
本综述总结了近年来通过全基因组关联研究、拷贝数变异研究或下一代测序等方法，识别与精神分裂症相关的遗传变异的最新研究进展。
近年来，关于精神分裂症遗传学的大量新证据不断积累。已经检测到许多新的、与疾病高度相关的遗传位点。此外，人们普遍认为至少有十几个微缺失和微重复与疾病有关。精神分裂症、其他精神障碍和神经发育综合征之间的遗传重叠，引发了人们对当前精神和神经发育疾病分类的新质疑。
未来的研究将特别关注遗传变异的功能特征。这有望为我们理解精神分裂症及其他相关疾病的病理生理学打开大门。基因组学、转录组学、蛋白质组学和代谢组学的互补、综合系统生物学方法，也可能在为个体患者的治疗提供精准医学方法方面发挥关键作用。
