New findings in schizophrenia genetics are based on genome-wide association studies(GWAS), research into DNA copy number variations(CNVs), and endophenotypes. More than 70 genes have recently been suspected to be invo...New findings in schizophrenia genetics are based on genome-wide association studies(GWAS), research into DNA copy number variations(CNVs), and endophenotypes. More than 70 genes have recently been suspected to be involved in the genetic background of schizophrenia based on the GWAS′s results. They are typically related to neurodevelopment/neuroplasticity, immunology and neuroendocrinology. Nevertheless, for many detected genes their possible relationship to schizophrenia etiopathogenesis is still unknown. The CNVs at genome loci 1q21.1(candidate gene e.g., PRKAB2), 2p16.3(candidate gene e.g., NRXN1), 3q29(candidate genes e.g., BDH1, DLG1, PAK2 or TFRC), 15q11.2(candidate gene e.g., CYFIP1), 15q13.3(candidate gene e.g., CHRNA7), 16p13.1(candidate genes e.g.,NTAN1 or NDE1) and 22q11.2(candidate genes e.g., COMT, GSTT2 or PRODH) were associated with schizophrenia most frequently. Genetic research of schizophrenia endophenotypes, usually neurophysiological, neuromotoric, neurocognitive, neuroanatomical, neurological orpersonality-related, will help us to discover the role of relevant genes in the pathogenesis of schizophrenia. It is also necessary to integrate knowledge from other research platforms in schizophrenia, like epigenetics, studies of gene-environment interactions, transcriptomics, proteomics, metabolomics, neuroimaging and psychopathology. A better knowledge of the genetic background of schizophrenia can lead to changes in the treatment, prevention and genetic counselling. It may also reduce stigma in this severe mental disorder.展开更多
实现全基因组关联研究(Genome-wide association study,GWA)在数年前还是遗传学家们的梦想,如今它已经变成了现实。自2005年Science杂志报道了第一项有关年龄相关性(视网膜)黄斑变性全基因组关联研究研究以来,有关与复杂疾病的全基因组...实现全基因组关联研究(Genome-wide association study,GWA)在数年前还是遗传学家们的梦想,如今它已经变成了现实。自2005年Science杂志报道了第一项有关年龄相关性(视网膜)黄斑变性全基因组关联研究研究以来,有关与复杂疾病的全基因组关联研究如雨后春笋般层出不穷。文中介绍了近两年来全基因组关联研究在复杂疾病研究领域内的主要发现、全基因组关联研究设计原理、遗传标记的选择、比较及相关商品信息。最后介绍了人类基因组拷贝数变异的研究进展,总结了人类全基因组关联研究所取得成就和存在的问题,并对全基因组关联研究未来的研究重点和要解决的问题进行了展望。展开更多
In the past few years, genome-wide association study （GWAS） has made great successes in identifying genetic susceptibility loci underlying many complex diseases and traits. The findings provide important genetic ins...In the past few years, genome-wide association study （GWAS） has made great successes in identifying genetic susceptibility loci underlying many complex diseases and traits. The findings provide important genetic insights into understanding pathogenesis of diseases. In this paper, we present an overview of widely used approaches and strategies for analysis of GWAS, offered a general consideration to deal with GWAS data. The issues regarding data quality control, population structure, association analysis, multiple comparison and visual presentation of GWAS results are discussed; other advanced topics including the issue of missing heritability, meta-analysis, setbased association analysis, copy number variation analysis and GWAS cohort analysis are also briefly introduced.展开更多
基因—环境和基因—基因交互作用在食管癌发生发展中起着重要作用。全基因组关联研究(genome-wide association study,GWAS)已发现一些与食管癌相关的易感位点和区域,为食管癌的预防和诊治提供了新的思路和方向。文章对近几年来关于食...基因—环境和基因—基因交互作用在食管癌发生发展中起着重要作用。全基因组关联研究(genome-wide association study,GWAS)已发现一些与食管癌相关的易感位点和区域,为食管癌的预防和诊治提供了新的思路和方向。文章对近几年来关于食管癌的GWAS进展进行综述,分析GWAS在食管癌研究中的优点和应用前景。展开更多
基金Supported by The Research Grant NT14504/2013 from the Internal Grant Agency of the Ministry of Health of the Czech Republic
文摘New findings in schizophrenia genetics are based on genome-wide association studies(GWAS), research into DNA copy number variations(CNVs), and endophenotypes. More than 70 genes have recently been suspected to be involved in the genetic background of schizophrenia based on the GWAS′s results. They are typically related to neurodevelopment/neuroplasticity, immunology and neuroendocrinology. Nevertheless, for many detected genes their possible relationship to schizophrenia etiopathogenesis is still unknown. The CNVs at genome loci 1q21.1(candidate gene e.g., PRKAB2), 2p16.3(candidate gene e.g., NRXN1), 3q29(candidate genes e.g., BDH1, DLG1, PAK2 or TFRC), 15q11.2(candidate gene e.g., CYFIP1), 15q13.3(candidate gene e.g., CHRNA7), 16p13.1(candidate genes e.g.,NTAN1 or NDE1) and 22q11.2(candidate genes e.g., COMT, GSTT2 or PRODH) were associated with schizophrenia most frequently. Genetic research of schizophrenia endophenotypes, usually neurophysiological, neuromotoric, neurocognitive, neuroanatomical, neurological orpersonality-related, will help us to discover the role of relevant genes in the pathogenesis of schizophrenia. It is also necessary to integrate knowledge from other research platforms in schizophrenia, like epigenetics, studies of gene-environment interactions, transcriptomics, proteomics, metabolomics, neuroimaging and psychopathology. A better knowledge of the genetic background of schizophrenia can lead to changes in the treatment, prevention and genetic counselling. It may also reduce stigma in this severe mental disorder.
文摘实现全基因组关联研究(Genome-wide association study,GWA)在数年前还是遗传学家们的梦想,如今它已经变成了现实。自2005年Science杂志报道了第一项有关年龄相关性(视网膜)黄斑变性全基因组关联研究研究以来,有关与复杂疾病的全基因组关联研究如雨后春笋般层出不穷。文中介绍了近两年来全基因组关联研究在复杂疾病研究领域内的主要发现、全基因组关联研究设计原理、遗传标记的选择、比较及相关商品信息。最后介绍了人类基因组拷贝数变异的研究进展,总结了人类全基因组关联研究所取得成就和存在的问题,并对全基因组关联研究未来的研究重点和要解决的问题进行了展望。
基金supported by National Natural Science Foundation of China(No.81072389,81373102,81473070 and 81402765)Research Found for the Doctoral Program of Higher Education of China(No.20113234110002)+4 种基金Key Grant of Natural Science Foundation of the Jiangsu Higher Education Institutions of China(No.10KJA330034)College Philosophy and Social Science Foundation from Education Department of Jiangsu Province of China(No.2013SJB790059,2013SJD790032)Research Foundation from Xuzhou Medical College(No.2012KJ02)Research and Innovation Project for College Graduates of Jiangsu Province of China(No.CXLX13_574)the Priority Academic Program Development of Jiangsu Higher Education Institutions(PAPD)
文摘In the past few years, genome-wide association study （GWAS） has made great successes in identifying genetic susceptibility loci underlying many complex diseases and traits. The findings provide important genetic insights into understanding pathogenesis of diseases. In this paper, we present an overview of widely used approaches and strategies for analysis of GWAS, offered a general consideration to deal with GWAS data. The issues regarding data quality control, population structure, association analysis, multiple comparison and visual presentation of GWAS results are discussed; other advanced topics including the issue of missing heritability, meta-analysis, setbased association analysis, copy number variation analysis and GWAS cohort analysis are also briefly introduced.
文摘基因—环境和基因—基因交互作用在食管癌发生发展中起着重要作用。全基因组关联研究(genome-wide association study,GWAS)已发现一些与食管癌相关的易感位点和区域,为食管癌的预防和诊治提供了新的思路和方向。文章对近几年来关于食管癌的GWAS进展进行综述,分析GWAS在食管癌研究中的优点和应用前景。
