【佳学基因检测】使用全基因组成像遗传学绘制从基因检测到神经精神疾病的因果通路

基因治疗精神病最新方法简介

研讨三甲医师职称提升神经科疾病学在《精神与神经疾病致病基因检测与转移潜能分析》收录《Psychiatry Clin Neurosci》在. 2019 Jul;73(7):357-369.发表了一篇题目为《使用全基因组成像遗传学绘制从遗传学到神经精神疾病的因果通路：现状和未来方向》神经精神疾病的因果关系基因检测临床研究文章。该研究由Brandon D Le, Jason L Stein等完成。促进了神经科疾病病因学、病源学的与个性化用药的发展，进一步提升了神经精神系统疾病诊断与治疗的正确性与全面性。

精神科神经科致病基因及正确治疗临床研究内容关键词：

全基因组,成像,遗传学,绘制,因果关系

神经科用药指导基因检测临床应用结果

影像遗传学旨在识别与人脑结构和功能相关的遗传变异。最近，合作联盟在这一目标上取得了成功，识别和复制了通过磁共振成像测量的影响人类大脑总体结构的常见基因变异。在这篇综述中，我们将成像遗传关联作为理解从遗传变异到神经精神疾病风险增加的因果链的一个重要环节。我们提供了其他领域的例子，说明如何识别遗传变异与疾病和因果链上的多种表型的关联，揭示了对疾病风险的机制理解，并对成像遗传学如何类似地应用产生了影响。我们讨论了影像遗传学研究领域的当前发现，包括常见的遗传变异对大脑结构的影响比对精神分裂症等疾病的风险稍大，这表明遗传结构更简单。此外，粗略的大脑结构测量与一些（但不是全部）神经精神疾病具有共同的遗传基础，这使以前认为它们是广泛的内表型的信念无效，但可以正确定位可能与特定疾病的病理学有关的大脑区域。最后，我们建议，为了更详细地了解遗传变异对大脑的影响，未来成像遗传学研究的方向将需要在磁共振成像分辨率之外观察特定大脑区域的细胞和突触结构。我们预计，在从突触到脑沟的生物学水平上整合遗传关联将揭示影响神经精神疾病风险的特定因果途径。影像遗传学；神经精神疾病；组织清理。

神经及精神疾病及其并发征、合并征国际数据库描述：

Imaging genetics aims to identify genetic variants associated with the structure and function of the human brain. Recently, collaborative consortia have been successful in this goal, identifying and replicating common genetic variants influencing gross human brain structure as measured through magnetic resonance imaging. In this review, we contextualize imaging genetic associations as one important link in understanding the causal chain from genetic variant to increased risk for neuropsychiatric disorders. We provide examples in other fields of how identifying genetic variant associations to disease and multiple phenotypes along the causal chain has revealed a mechanistic understanding of disease risk, with implications for how imaging genetics can be similarly applied. We discuss current findings in the imaging genetics research domain, including that common genetic variants can have a slightly larger effect on brain structure than on risk for disorders like schizophrenia, indicating a somewhat simpler genetic architecture. Also, gross brain structure measurements share a genetic basis with some, but not all, neuropsychiatric disorders, invalidating the previously held belief that they are broad endophenotypes, yet pinpointing brain regions likely involved in the pathology of specific disorders. Finally, we suggest that in order to build a more detailed mechanistic understanding of the effects of genetic variants on the brain, future directions in imaging genetics research will require observations of cellular and synaptic structure in specific brain regions beyond the resolution of magnetic resonance imaging. We expect that integrating genetic associations at biological levels from synapse to sulcus will reveal specific causal pathways impacting risk for neuropsychiatric disorders.Keywords: genome-wide association study; imaging genetics; neuropsychiatric disorders; tissue clearing.

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