个人中心| | 帮助
高级检索
当前位置： 首页 > 详情页

Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia

| 认领 | 导出 | |

文献详情

资源类型：
WOS体系：
Pubmed体系：

收录情况： ◇ SCIE ◇ 统计源期刊 ◇ CSCD-C

作者：
Tang Jinsong[1] * ; Fan Yu[2] * ; Li Hong[1,10] * ; Xiang Qun[2,3] ; Zhang Deng-Feng[2] ; Li Zongchang[1] ; He Ying[1] ; Liao Yanhui[1] ; Wang Ya[4] ; He Fan[5] ; Zhang Fengyu[1] ; Shugart Yin Yao[6] ; Liu Chunyu[7] ; Tang Yanqing[8] ; Chan Raymond C K[4] ; Wang Chuan-Yue[5] ; Yao Yong-Gang[2,3,9] ; Chen Xiaogang[1] ;
机构： [1]Institute of Mental Health, National Clinical Research Center for Mental Health Disorders and National Technology Institute of Psychiatry, and Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Second Xiangya Hospital, Central South University, Changsha 410011, China [2]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming 650223, China [3]Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming 650204, China [4]Neuropsychology and Applied Cognitive Neuroscience Laboratory, and CAS Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing 100101, China [5]Beijing Key Laboratory of Mental Disorders, Department of Psychiatry, Beijing Anding Hospital, and Center of Schizophrenia, Beijing Institute for Brain Disorders and Laboratory of Brain Disorders of the Ministry of Science and Technology, Capital Medical University, Beijing 100088, China [6]Unit on Statistical Genomics, Intramural Research Programs, National Institute of Mental Health, NIH, Bethesda 20892, USA [7]Institute of Human Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA [8]Department of Psychiatry, The First Affiliated Hospital of China Medical University, Shenyang 110122, China [9]CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, China [10]Department of Psychiatry, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
出处：
DOI： 10.1016/j.jgg.2017.05.005
ISSN：

关键词： Whole-genome sequencing Schizophrenia Monozygotic twin De novo mutation Combined effect Susceptibility

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 © 2017 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. All rights reserved.

基金：
Strategic Priority Research Program (B) of the Chinese Academy of Sciences (XDB02020003 and XDB02030002), the Bureau of Frontier Sciences and Education, Chinese Academy of Sciences (QYZDJ-SSW-SMC005) and the National Natural Science Foundation of China (Nos. 81088001, 81271484, 81471361 and 81371480), the Beijing Training Project for the Leading Talents in S & T (Z151100000315020), the National Key Basic Research and Development Program (973) (2012CB517904), the CAS/SAFEA International Partnership Programme for Creative Research Teams (Y2CX131003).
语种：
外文
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2017]版：
大类 | 2 区 生物
小类 | 3 区 生化与分子生物学 3 区 遗传学
最新[2023]版：
大类 | 2 区 生物学
小类 | 3 区 生化与分子生物学 3 区 遗传学
JCR分区：
出版当年[2016]版：
Q1 GENETICS & HEREDITY Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
最新[2023]版：
Q1 GENETICS & HEREDITY Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2016版] 出版当年五年平均 出版前一年[2015版] 出版后一年[2017版]

第一作者：
第一作者机构： [1]Institute of Mental Health, National Clinical Research Center for Mental Health Disorders and National Technology Institute of Psychiatry, and Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Second Xiangya Hospital, Central South University, Changsha 410011, China
共同第一作者：
通讯作者：
通讯机构： [2]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming 650223, China [3]Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming 650204, China [9]CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, China
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.doi:10.1016/j.jgg.2017.05.005.
APA：
Tang Jinsong,Fan Yu,Li Hong,Xiang Qun,Zhang Deng-Feng...&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)
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

相关文献

[1]Whole-genome sequencing of a monozygotic twin discordant for systemic lupus erythematosus [2]Whole genome sequencing analysis of lung adenocarcinoma in Xuanwei, China [3]De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report. [4]全基因组测序在遗传病检测中的临床应用专家共识 [5]Experience of Low-Pass Whole-Genome Sequencing-Based Copy Number Variant Analysis: A Survey of Chinese Tertiary Hospitals [6]全基因组测序在遗传病检测中的临床应用专家共识 [7]A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing [8]Characterization of Somatic Mutations in Air Pollution-Related Lung Cancer [9]Genetic Risk Evaluation in Families with Lung Cancer History in High Lung Cancer Mortality Region of Xuanwei, China [10]家族性低磷血症性佝偻病家系X染色体内肽酶同源性的磷酸调节基因新突变一例报道

资源点击量：82478 今日访问量：0 总访问量：681 更新日期：2025-01-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 云南省第一人民医院 技术支持：重庆聚合科技有限公司 地址：云南省昆明市西山区金碧路157号