儿童期起病精神分裂症的遗传学 2019 更新版。
Genetics of Childhood-onset Schizophrenia 2019 Update.
机构信息
Department of Psychiatry & Biobehavioral Sciences, University of California, Los Angeles, 760 Westwood Plaza, Los Angeles, CA 90095, USA.
Department of Psychiatry & Biobehavioral Sciences, University of California, Los Angeles, 760 Westwood Plaza, Los Angeles, CA 90095, USA; Department of Psychology, University of California, Los Angeles, 502 Portola Plaza Los Angeles, CA 90095, USA; Brain Research Institute, University of California, Los Angeles, 695 Charles E Young Dr S, Los Angeles, CA 90095, USA.
出版信息
Child Adolesc Psychiatr Clin N Am. 2020 Jan;29(1):157-170. doi: 10.1016/j.chc.2019.08.007. Epub 2019 Oct 17.
The genetic architecture of schizophrenia is complex and highly polygenic. This article discusses key findings from genetic studies of childhood-onset schizophrenia (COS) and the more common adult-onset schizophrenia (AOS), including studies of familial aggregation and common, rare, and copy number variants. Extant literature suggests that COS is a rare variant of AOS involving greater familial aggregation of schizophrenia spectrum disorders and a potentially higher occurrence of pathogenic copy number variants. The direct utility of genetics to clinical practice for COS is currently limited; however, identifying common pathways through which risk genes affect brain function offers promise for novel interventions.
精神分裂症的遗传结构复杂且高度多基因化。本文讨论了儿童起病精神分裂症 (COS) 和更常见的成人起病精神分裂症 (AOS) 的遗传研究中的关键发现，包括家族聚集性以及常见、罕见和拷贝数变异的研究。现有文献表明，COS 是 AOS 的一种罕见变异，涉及精神分裂症谱系障碍的家族聚集性更大，以及潜在更高的致病性拷贝数变异发生率。遗传在 COS 临床实践中的直接应用目前受到限制；然而，通过风险基因影响大脑功能的常见途径来识别，为新的干预措施提供了希望。
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