Institutional Repository of Key Laboratory of Mental Health, CAS
Genomic Dissection of Bipolar Disorder and chizophrenia, Including 28 Subphenotypes | |
Ruderfer, DM (Ruderfer, Douglas M.); Ripke, S (Ripke, Stephan); McQuillin, A (McQuillin, Andrew); Boocock, J (Boocock, James); Stahl, EA (Stahl, Eli A.); Pavlides, JMW (Pavlides, Jennifer M. Whitehead); Mullins, N (Mullins, Niamh); Charney, AW (Charney, Alexander W.); Ori, APS (Ori, Anil P. S.); Loohuis, LMO(Loohuis, Loes M. Olde)等 | |
摘要 | Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and disorder-specific symptoms will be crucial for improving diagnosis and treatment. In genetic data consisting of 53,555 cases (20,129 bipolar disorder [BD], 33,426 schizophrenia [SCZ]) and 54,065 controls, we identified 114 genome-wide significant loci implicating synaptic and neuronal pathways shared between disorders. Comparing SCZ to BD (23,585 SCZ, 15,270 BD) identified four genomic regions including one with disorder-independent causal variants and potassium ion response genes as contributing to differences in biology between the disorders. Polygenic risk score (PRS) analyses identified several significant correlations within case-only phenotypes including SCZ PRS with psychotic features and age of onset in BD. For the first time, we discover specific loci that distinguish between BD and SCZ and identify polygenic components underlying multiple symptom dimensions. These results point to the utility of genetics to inform symptomology and potential treatment. |
关键词 | Psychiat Genomics Consortium Psychiat Genomics Consortium Psychosis Endophenotypes Inter Wellcome Trust Case-Control |
2019 | |
DOI | 10.1016/j.cell.2018.05.046 |
发表期刊 | CELL |
ISSN | 0092-8674 |
卷号 | 173期号:7页码:46 |
期刊论文类型 | 综述 |
收录类别 | SCI ; SSCI |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://ir.psych.ac.cn/handle/311026/34121 |
专题 | 中国科学院心理健康重点实验室 |
推荐引用方式 GB/T 7714 | Ruderfer, DM ,Ripke, S ,McQuillin, A ,et al. Genomic Dissection of Bipolar Disorder and chizophrenia, Including 28 Subphenotypes[J]. CELL,2019,173(7):46. |
APA | Ruderfer, DM .,Ripke, S .,McQuillin, A .,Boocock, J .,Stahl, EA .,...&Loohuis, LMO.(2019).Genomic Dissection of Bipolar Disorder and chizophrenia, Including 28 Subphenotypes.CELL,173(7),46. |
MLA | Ruderfer, DM ,et al."Genomic Dissection of Bipolar Disorder and chizophrenia, Including 28 Subphenotypes".CELL 173.7(2019):46. |
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文件名称/大小 | 文献类型 | 版本类型 | 开放类型 | 使用许可 | ||
Genomic Dissection o(997KB) | 期刊论文 | 出版稿 | 限制开放 | CC BY-NC-SA | 请求全文 |
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