Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia
文献类型：期刊论文
| 作者 | Tang Jinsong14; Fan Yu11; Li Hong14; Xiang Qun11; Zhang DengFeng11; Li Zongchang14; He Ying14; Liao Yanhui14; Wang Ya8; He Fan7 |
| 刊名 | JOURNAL OF GENETICS AND GENOMICS
 |
| 出版日期 | 2017 |
| 卷号 | 44期号:6页码:295-306 |
| 关键词 | DE-NOVO MUTATIONS STRUCTURAL VARIANT DISCOVERY WIDE ASSOCIATION PSYCHIATRIC-DISORDERS SYNAPTIC PLASTICITY BIPOLAR DISORDER PROTEIN FUNCTION COMPLEX TRAITS MESSENGER-RNA HUMAN-DISEASE Whole-genome sequencing Schizophrenia Monozygotic twin De novo mutation Combined effect Susceptibility |
| ISSN号 | 1673-8527 |
| 英文摘要 | Schizophrenia is a common disorder with a high heritability, but its genetic architecture is still elusive. We implemented whole-genome sequencing (WGS) analysis of 8 families with monozygotic (MZ) twin pairs discordant for schizophrenia to assess potential association of de novo mutations (DNMs) or inherited variants with susceptibility to schizophrenia. Eight non-synonymous DNMs (including one splicing site) were identified and shared by twins, which were either located in previously reported schizophrenia risk genes (p. V24689I mutation in TTN, p. S2506T mutation in GCN1L1, IVS3+1G > T in DOCK1) or had a benign to damaging effect according to in silico prediction analysis. By searching the inherited rare damaging or loss-of-function (LOF) variants and common susceptible alleles from three classes of schizophrenia candidate genes, we were able to distill genetic alterations in several schizophrenia risk genes, including GAD1, PLXNA2, RELN and FEZ1. Four inherited copy number variations (CNVs; including a large deletion at 16p13.11) implicated for schizophrenia were identified in four families, respectively. Most of families carried both missense DNMs and inherited risk variants, which might suggest that DNMs, inherited rare damaging variants and common risk alleles together conferred to schizophrenia susceptibility. Our results support that schizophrenia is caused by a combination of multiple genetic factors, with each DNM/variant showing a relatively small effect size. Copyright (C) 2017, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press. All rights reserved. |
| 资助项目 | [Strategic Priority Research Program of the Chinese Academy of Sciences] ; [Bureau of Frontier Sciences and Education, Chinese Academy of Sciences] ; [National Natural Science Foundation of China] ; [Beijing Training Project for the Leading Talents in S T] ; [National Key Basic Research and Development Program (973)] ; [CAS/SAFEA International Partnership Programme for Creative Research Teams] |
| 语种 | 英语 |
| CSCD记录号 | CSCD:6023344 |
| 源URL | [http://ir.imr.ac.cn/handle/321006/155108]  |
| 专题 | 金属研究所_中国科学院金属研究所 |
| 作者单位 | 1.Chinese Acad Science, CAS Ctr Excellence Brain Science & Intelligence Techn, Shanghai 200031, Peoples R China CAS Ctr Excellence Brain Science & Intelligence Techn 2.中国科学院金属研究所 3.Univ Illinois, Institute Human Genet, Chicago, IL 60607 USA 4.NIMH, Unit Stat Genom, Intramural Res Programs, NIH, Bethesda, MD 20892 USA 5.Capital Med University, Lab Brain Disorders, Minist Sci & Technol, Beijing 100088, Peoples R China 6.Capital Med Univ, Ctr Schizophrenia, Beijing Institute Brain Disorders, Minist Sci & Technol, Beijing 100088, Peoples R China 7.Capital Med University, Beijing Key Lab Mental Disorders, Dept Psychiat, Beijing Anding Hosp, Beijing 100088, Peoples R China 8.中国科学院 9.中国科学院大学 10.郑州大学 |
| 推荐引用方式 GB/T 7714 | Tang Jinsong,Fan Yu,Li Hong,et al. Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia[J]. JOURNAL OF GENETICS AND GENOMICS,2017,44(6):295-306. |
| APA | Tang Jinsong.,Fan Yu.,Li Hong.,Xiang Qun.,Zhang DengFeng.,...&Chen Xiaogang.(2017).Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia.JOURNAL OF GENETICS AND GENOMICS,44(6),295-306. |
| MLA | Tang Jinsong,et al."Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia".JOURNAL OF GENETICS AND GENOMICS 44.6(2017):295-306. |
入库方式： OAI收割
来源：金属研究所
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