精神分裂症临床遗传检测:一个系统的审查和元分析
Harman Singh Brah1, Nimrat Sran2, Sanjana Sanghani3
1School of Medicine, University of California San Diego, San Diego, California; Department of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, California.
Biological psychiatry
|October 2, 2025
概括
基因检测在约6%的精神分裂症患者中发现了显著的遗传变异. 由于研究异质性和有限的地理范围,进一步的研究需要标准化的方法和多样化的群体.
科学领域:
- 精神病学遗传学 精神病学遗传学
- 基因组医学是基因组医学.
- 精神分裂症研究 精神分裂症研究
背景情况:
- 基因检测提供了对精神分裂症的潜在诊断见解.
- 不同的遗传测试中对变异检测率的系统评估缺乏.
研究的目的:
- 系统地评估通过各种基因测试方法在精神分裂症患者中发现的临床显著遗传变异的频率.
- 综合现有的关于精神分裂症遗传检测诊断产量的数据.
主要方法:
- 2007年1月至2023年6月期间发表的研究的系统审查和元分析.
- 包括报告临床遗传测试结果导致精神分裂症的研究,遵守PRISMA指南.
- 随机效应建模用于估计聚合和特定平台的变种检测率,使用I平方统计学来评估异质性.
主要成果:
- 对31项涉及20476名参与者的研究分析显示,有6%的精神分裂症患者患有临床显著的遗传变异.
- 检测率因平台而异:染色体微阵列为6%,外基因组测序为5%,基因组测序为7%.
- 在研究中发现了显著的异质性 (I^2 = 95.9%),地理多样性有限.
结论:
- 基因检测可以在约6%的被诊断患有精神分裂症的人群中确定临床信息变异.
- 显著的异质性和有限的地理代表性凸显了在精神分裂症研究中需要标准化遗传测试协议和更广泛的人口采样的需要.
相关概念视频
Biological Causes of Schizophrenia
501
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
501
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
1.8K
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
1.8K
Psychological and Sociocultural Causes of Schizophrenia
470
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
470
Human Genetics
1.5K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
1.5K
Behavioral Genetics and Its Designs
1.0K
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.0K
Genome-wide Association Studies-GWAS
15.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.3K


