Rujescu D
Klinik und Poliklinik für Psychiatrie, Psychotherapie und Psychosomatik, Martin-Luther-Universität Halle-Wittenberg, Julius-Kühn-Str. 7, 06112, Halle, Deutschland.
Nervenarzt. 2017 Jul;88(7):751-754. doi: 10.1007/s00115-017-0330-2.
Schizophrenia is a severe psychiatric disease affecting approximately 0.5-1% of the general population. The relative contribution of genetic factors has been estimated to be 64-81%.
This review summarizes recent efforts to identify genetic variants associated with schizophrenia.
Relevant linkage and candidate genes as well as genome wide association studies, studies on copy number variants and next generation sequencing are presented and discussed.
The latest and worldwide largest study on the genetics of schizophrenia found 128 genome wide significant single nucleotide polymorphisms (SNP) and 108 genome wide loci. The most obvious association is with genetic variations in the major histocompatibility complex (MHC). Besides polymorphisms, structural variants in the form of copy number variants (CNV), such as microdeletions and microduplications have a very high impact in a subgroup of patients. These CNVs are mainly microdeletions on 1q21.1, 2p16.3, 3q29, 15q13.3 and 16p11.2 as well as a large deletion on 22q11.21 and a microduplication on 16p11.2.
A large new body of evidence on the genetics of schizophrenia is expected through next generation sequencing approaches. Future studies will particularly address the functional characterization of genetic variants.
精神分裂症是一种严重的精神疾病，影响着约0.5%-1%的普通人群。据估计，遗传因素的相对贡献率为64%-81%。
本综述总结了近期识别与精神分裂症相关的基因变异的研究成果。
介绍并讨论了相关的连锁分析、候选基因研究以及全基因组关联研究、拷贝数变异研究和下一代测序研究。
最新的一项全球范围内最大规模的精神分裂症遗传学研究发现了128个全基因组显著的单核苷酸多态性（SNP）和108个全基因组位点。最明显的关联是与主要组织相容性复合体（MHC）的基因变异。除了多态性外，拷贝数变异（CNV）形式的结构变异，如微缺失和微重复，在一部分患者中具有很高的影响。这些CNV主要是1q21.1、2p16.3、3q29、15q13.3和16p11.2上的微缺失，以及22q11.21上的大片段缺失和16p11.2上的微重复。
通过下一代测序方法有望获得大量关于精神分裂症遗传学的新证据。未来的研究将特别关注基因变异的功能特征。
