Genome-Wide Association Study of Schizophrenia

精神分裂症的全基因组关联研究

• 批准号: 7343098
• 负责人: Pablo V. Gejman
• 金额: $ 13.99万
• 依托单位: NORTHSHORE UNIVERSITY HEALTHSYSTEM
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-09-27 至 2008-09-26
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7343098
• 关键词: Accounting; Admixture; African American; American; Biological; Biometry; Candidate Disease Gene; Clinical; Clinical Data; DNA; DNA Resequencing; Data; Data Set; Database Management Systems; European; Evaluation; Functional disorder; Funding; Genetic; Genome; Genotype; Goals; Grant; Individual; Information Networks; Maps; Molecular Genetics; National Institute of Mental Health; Policies; Population; Protocols documentation; Rate; Sampling; Schizophrenia; Scientist; Single Nucleotide Polymorphism Map; Site; Specimen; Standards of Weights and Measures; Susceptibility Gene; Test Result; Testing; base; case control; clinical Diagnosis; genetic association; genetic linkage analysis; genome wide association study; programs; repository; research study; trait

DESCRIPTION (provided by applicant): This is an application for 1 year of funding for an R01 site submitted under RFA-MH-07-060, "Limited Competition for Applications to Analyze Whole Genome Association Data for NIMH (R01)." The rationale underlying this proposal is that since the pathophysiology of SZ is unknown, but is likely to involve multiple genetic components, application of the genome-wide association strategy to clinical samples with adequate statistical power is expected to identify susceptibility genes that have been missed by linkage analysis and by candidate gene association studies. The Specific aims are: 1) Genotype a genome-wide SNP map in 1,540 cases and 1,540 screened control subjects of European ancestry (EA), and 1,100 African American (AA) cases and 1,100 AA controls from the repository-based Molecular Genetics of Schizophrenia (MGS) sample collected by ten sites under a common protocol with demonstrated inter-rater reliability for diagnosis and clinical ratings. 2) Carry out primary and secondary analyses of genetic association of the trait, accounting for population substructure and admixture. 3) In concordance with Genetic Association Information Network (GAIN) policies, we will rapidly share the genotypic data and a large phenotypic dataset. All DNA specimens and clinical data for cases and controls are already available for the GAIN experiments and are being made publicly available by the NIMH repository program (www.nimhqenetics.org)using its standard centralized database management system, so that other scientists will be able to use these specimens and clinical data to check, confirm, and extend our findings. The overall goal of this application is to find new susceptibility genes for schizophrenia.

描述（由申请人提供）：这是根据 RFA-MH-07-060“NIMH 全基因组关联数据分析应用程序的有限竞争 (R01)”提交的 R01 站点 1 年资助申请。该提议的基本原理是，由于 SZ 的病理生理学尚不清楚，但可能涉及多种遗传成分，因此将全基因组关联策略应用于具有足够统计能力的临床样本有望识别出被 SZ 遗漏的易感基因。连锁分析和候选基因关联研究。具体目标是：1) 对来自精神分裂症分子遗传学存储库的 1,540 个病例和 1,540 个筛选的欧洲血统 (EA) 对照受试者以及 1,100 个非裔美国人 (AA) 病例和 1,100 个 AA 对照受试者进行全基因组 SNP 图谱基因分型(MGS) 样本由十个地点根据共同协议收集，并证明诊断和临床评级的评估者间可靠性。 2) 对性状的遗传关联进行初级和次级分析，考虑群体亚结构和混合。 3）根据遗传关联信息网络（GAIN）政策，我们将快速共享基因型数据和大型表型数据集。病例和对照的所有 DNA 样本和临床数据均已可用于 GAIN 实验，并且由 NIMH 存储库计划 (www.nimhqenetics.org) 使用其标准集中式数据库管理系统公开提供，以便其他科学家能够使用这些标本和临床数据来检查、确认和扩展我们的发现。该应用的总体目标是寻找精神分裂症的新易感基因。