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分析生物行为、功能基因组和分子遗传学水平上 11 种主要精神疾病的遗传结构。

Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis.

机构信息

Department of Psychology and Neuroscience, University of Colorado at Boulder, Boulder, CO, USA.

Institute for Behavioral Genetics, University of Colorado at Boulder, Boulder, CO, USA.

出版信息

Nat Genet. 2022 May;54(5):548-559. doi: 10.1038/s41588-022-01057-4. Epub 2022 May 5.

Abstract

We interrogate the joint genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis. We identify four broad factors (neurodevelopmental, compulsive, psychotic and internalizing) that underlie genetic correlations among the disorders and test whether these factors adequately explain their genetic correlations with biobehavioral traits. We introduce stratified genomic structural equation modeling, which we use to identify gene sets that disproportionately contribute to genetic risk sharing. This includes protein-truncating variant-intolerant genes expressed in excitatory and GABAergic brain cells that are enriched for genetic overlap across disorders with psychotic features. Multivariate association analyses detect 152 (20 new) independent loci that act on the individual factors and identify nine loci that act heterogeneously across disorders within a factor. Despite moderate-to-high genetic correlations across all 11 disorders, we find little utility of a single dimension of genetic risk across psychiatric disorders either at the level of biobehavioral correlates or at the level of individual variants.

摘要

我们在生物行为、功能基因组和分子遗传学分析水平上探讨了 11 种主要精神障碍的联合遗传结构。我们确定了四个广泛的因素(神经发育、强迫、精神病和内化),这些因素是这些障碍之间遗传相关性的基础,并测试这些因素是否能充分解释它们与生物行为特征的遗传相关性。我们引入了分层基因组结构方程建模,我们用它来识别不成比例地导致遗传风险共享的基因集。这包括在兴奋性和 GABA 能脑细胞中表达的截断蛋白变异不耐受基因,这些基因在具有精神病特征的障碍之间存在遗传重叠。多变量关联分析检测到 152 个(20 个新)独立的基因座,这些基因座作用于个体因素,并确定了 9 个基因座在一个因素内的多个障碍中表现出异质性。尽管所有 11 种障碍的遗传相关性从中等到高度不等,但我们发现单一遗传风险维度在生物行为相关性或个体变异水平上对精神障碍几乎没有用处。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d130/9117465/e3c2eeb5ac43/nihms-1791507-f0001.jpg

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