Fabrizio Turiaco, Fiammetta Iannuzzo, Antonio Bruno, Antonio Drago
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引用次数: 0
摘要
自杀是导致全球死亡的主要原因之一。自杀意念(SI)是自杀行为(SB)的一个已知风险因素。目前,自杀意念和自杀行为的心理生物学和遗传易感性尚不明确。尽管自杀意念的遗传背景具有令人信服的相关性,但目前还没有关于遗传构成的可实施知识来识别有自杀风险的受试者。缺乏明确证据的原因之一可能是 SI 具有多基因遗传的性质,而且需要非常大的样本量才能观察到显著的遗传关联结果。CATIE 样本有助于分析。SI是通过卡尔加里测试得出的。通过嵌套回归模型确定了临床可能的协变量。主成分分析有助于确定可能的遗传分层因素。为确定遗传因素对 SI 的影响,还进行了 GWAS 分析、与随机森林分析相关的多基因风险评分以及分子通路分析。结果,CATIE 中有 741 名精神分裂症患者可用于遗传分析,其中包括经过质量控制和剪枝处理的 166,325 个 SNPs。结果没有发现有意义的 GWAS 结果。结合多基因风险评分和几个临床变量进行的随机森林分析得出了一个可能过度拟合的模型(OOB 误差率
Genetics of suicide ideation. A role for inflammation and neuroplasticity?
Suicide is a leading cause of death worldwide. Suicide ideation (SI) is a known risk factor for suicide behaviour (SB). The current psychobiology and genetic predisposition to SI and SB are poorly defined. Despite convincing relevance of a genetic background for SI, there is no current implementable knowledge about the genetic makeup that identifies subjects at risk for it. One of the possible reasons for the absence of a clear-cut evidence is the polygenetic nature of SI along with the very large sample sizes that are needed to observe significant genetic association result. The CATIE sample was instrumental to the analysis. SI was retrieved as measured by the Calgary test. Clinical possible covariates were identified by a nested regression model. A principal component analysis helped in defining the possible genetic stratification factors. A GWAS analysis, polygenic risk score associated with a random forest analysis and a molecular pathway analysis were undertaken to identify the genetic contribution to SI. As a result, 741 Schizophrenic individuals from the CATIE were available for the genetic analysis, including 166,325 SNPs after quality control and pruning. No GWAS significant result was found. The random forest analysis conducted by combining the polygenic risk score and several clinical variables resulted in a possibly overfitting model (OOB error rate < 1%). The molecular pathway analysis revealed several molecular pathways possibly involved in SI, of which those involved in microglia functioning were of particular interest. A medium-small sample of SKZ individuals was analyzed to shed a light on the genetic of SI. As an expected result from the underpowered sample, no GWAS positive result was retrieved, but the molecular pathway analysis indicated a possible role of microglia and neurodevelopment in SI.
期刊介绍:
The original papers published in the European Archives of Psychiatry and Clinical Neuroscience deal with all aspects of psychiatry and related clinical neuroscience.
Clinical psychiatry, psychopathology, epidemiology as well as brain imaging, neuropathological, neurophysiological, neurochemical and moleculargenetic studies of psychiatric disorders are among the topics covered.
Thus both the clinician and the neuroscientist are provided with a handy source of information on important scientific developments.