Department of Psychiatry and Behavioral Sciences; and Research Institute, Center for Psychiatric Genetics, NorthShore University HealthSystem Research Institute, Evanston, IL 60201, USA.
Psychiatr Clin North Am. 2010 Mar;33(1):35-66. doi: 10.1016/j.psc.2009.12.003.
Schizophrenia is a complex genetic disorder manifesting combined environmental and genetic causation. Recently, genome-wide association experiments yielded remarkable new experimental evidence that is leading to a better understanding of the genetic models and the biological risk factors involved in schizophrenia. These studies have discovered uncommon copy number variations (mainly deletions) and common single nucleotide polymorphisms with alleles associated with schizophrenia. The aggregate data provide support for polygenic inheritance and for genetic overlap of schizophrenia with autism and with bipolar disorder. It is anticipated that the application of a myriad of tools from systems biology, in combination with biological functional experiments, will lead to a delineation of biological pathways involved in the pathophysiology of schizophrenia, and eventually to new therapies.
精神分裂症是一种复杂的遗传疾病，表现出综合的环境和遗传原因。最近，全基因组关联实验产生了显著的新实验证据，这有助于更好地理解精神分裂症的遗传模型和相关的生物学风险因素。这些研究发现了与精神分裂症相关的罕见拷贝数变异（主要是缺失）和常见的单核苷酸多态性等位基因。综合数据支持了精神分裂症的多基因遗传和与自闭症和双相情感障碍的遗传重叠。预计，系统生物学的众多工具的应用，结合生物学功能实验，将导致精神分裂症病理生理学相关的生物学途径的描绘，并最终导致新的治疗方法。
