【佳學基因檢測】使用全基因組成像遺傳學繪制從基因檢測到神經精神疾病的因果通路

基因治療精神病賊新方法簡介

研討三甲醫(yī)師職稱提升神經科疾病學在《精神與神經疾病致病基因檢測與轉移潛能分析》收錄《Psychiatry Clin Neurosci》在. 2019 Jul;73(7):357-369.發(fā)表了一篇題目為《使用全基因組成像遺傳學繪制從遺傳學到神經精神疾病的因果通路：現(xiàn)狀和未來方向》神經精神疾病的因果關系基因檢測臨床研究文章。該研究由Brandon D Le, Jason L Stein等完成。促進了神經科疾病病因學、病源學的與個性化用藥的發(fā)展，進一步提升了神經精神系統(tǒng)疾病診斷與治療的正確性與全面性。

精神科神經科致病基因及正確治療臨床研究內容關鍵詞：

全基因組,成像,遺傳學,繪制,因果關系

神經科用藥指導基因檢測臨床應用結果

影像遺傳學旨在識別與人腦結構和功能相關的遺傳變異。賊近，合作聯(lián)盟在這一目標上取得了成功，識別和復制了通過磁共振成像測量的影響人類大腦總體結構的常見基因變異。在這篇綜述中，我們將成像遺傳關聯(lián)作為理解從遺傳變異到神經精神疾病風險增加的因果鏈的一個重要環(huán)節(jié)。我們提供了其他領域的例子，說明如何識別遺傳變異與疾病和因果鏈上的多種表型的關聯(lián)，揭示了對疾病風險的機制理解，并對成像遺傳學如何類似地應用產生了影響。我們討論了影像遺傳學研究領域的當前發(fā)現(xiàn)，包括常見的遺傳變異對大腦結構的影響比對精神分裂癥等疾病的風險稍大，這表明遺傳結構更簡單。此外，粗略的大腦結構測量與一些（但不是全部）神經精神疾病具有共同的遺傳基礎，這使以前認為它們是廣泛的內表型的信念無效，但可以正確定位可能與特定疾病的病理學有關的大腦區(qū)域。賊后，我們建議，為了更詳細地了解遺傳變異對大腦的影響，未來成像遺傳學研究的方向將需要在磁共振成像分辨率之外觀察特定大腦區(qū)域的細胞和突觸結構。我們預計，在從突觸到腦溝的生物學水平上整合遺傳關聯(lián)將揭示影響神經精神疾病風險的特定因果途徑。影像遺傳學；神經精神疾??；組織清理。

神經及精神疾病及其并發(fā)征、合并征國際數(shù)據(jù)庫描述：

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.