CHARGE consortium: gene discovery for CVD and aging phenotypes

CHARGE 联盟：CVD 和衰老表型的基因发现

• 批准号: 9977252
• 负责人: Bruce M Psaty
• 金额: $ 67.66万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-02-15 至 2022-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9977252
• 关键词: Abbreviations; Aging; Alzheimer' s Disease; Atherosclerosis Risk in Communities; Award; Biology; Body Composition; Cardiovascular Diseases; Cardiovascular system; Cohort Studies; Collaborations; Coronary Artery Risk Development in Young Adults Study; Data; Diabetes Mellitus; Disease; Environment; Epidemiology; Etiology; Event; Faculty; Fellowship; Fostering; Framingham Heart Study; Funding; Future; Gene Expression; Genes; Genetic; Genome; Genomics; Genotype; Goals; Grant; Health; Heart; Hispanic Community Health Study; Incentives; Infrastructure; International; Jackson Heart Study; Journals; Latino; Lipids; Manuscripts; Measures; Meta-Analysis; Methods; Methylation; Multi-Ethnic Study of Atherosclerosis; National Heart, Lung, and Blood Institute; National Human Genome Research Institute; Participant; Persons; Phenotype; Positioning Attribute; Predisposition; Proteomics; Publications; Randomized; Research; Research Personnel; Resources; Risk Factors; Role; Sample Size; Science; Scientist; Sequence Analysis; Site; Standardization; Students; Testing; Time; Training; Trans-Omics for Precision Medicine; Travel; United States National Institutes of Health; Variant; Work; aptamer; base; cardiovascular health; cohort; database of Genotypes and Phenotypes; disorder risk; ethnic diversity; exome; gene discovery; genetic epidemiology; genetic variant; genome wide association study; genomic data; genomic epidemiology; genomic locus; improved; innovation; insight; malignant breast neoplasm; meetings; metabolomics; next generation; population based; posters; programs; prospective; rare variant; stomach cardia; symposium; therapeutic target; trait; transcriptome sequencing; web site; whole genome; wiki; working group

Consortia of genome-wide association studies (GWAS) have often organized around specific phenotypes such as diabetes and breast cancer to discover associations with genetic variants. The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium was instead formed from large- population-based cohort studies to facilitate prospectively-planned GWAS meta-analyses of a wide range of phenotypes. Expanded from the original 5 studies to 10, CHARGE cohorts have repeated measures of risk factors, subclinical disease measures, and cardiovascular events, all collected in a standardized fashion. Their collaboration represents a unique resource for identifying genetic loci associated with a variety of cardiovascular and aging phenotypes. Since 2011, with funding from the CHARGE infrastructure grant (HL105756), the consortium has thrived. Using GWAS and rare-variant data, CHARGE publications now number more than 643, many in high impact journals. With funding from the NHLBI, NHGRI, and the NIA, many of the CHARGE cohorts have recently obtained new genetic and omics data: 1) whole-genome sequence (WGS) data on 39,819 subjects; 2) whole-exome sequence (WES) data on 28,346; 3) methylation data on 16,083; 4) gene expression data on 12,133; 5) metabolomics data on 25,521; and 6) aptamer-based proteomics data on 11,306. CHARGE and its 40 active Working Groups, which collaborate and coordinate with NIH programs such as the NHLBI's Trans-Omics for Precision Medicine, are well positioned to accommodate all three new directions in genetic epidemiology—large-scale collaborations, genomic sequence data, and other omics data. New to this application are the CHARGE dbGaP Summary Results Website for public posting of summary results, the Analysis Commons for pooled analyses of sequence data and omics data, and the Mendelian Randomization Committee for analytic support with these innovative methods. The goals of this competing renewal application are to accelerate discovery of mechanisms underlying diseases of the cardiovascular system through robust analysis of genomic data and to identify the functional significance of the discovered variants through integration of multiple forms of large scale omics data. The aims of this competing renewal application are: 1) to provide coordinating center-like administrative support for conference calls, working groups, committees, and meetings; 2) to organize two major in-person meetings per year; 3) to provide travel awards for new investigators who submit the best abstracts for presentations or posters at the CHARGE meetings; 4) to provide support for fellowship exchanges for students, fellows and junior faculty to spend time working at another site on a CHARGE project; and 5) to provide modest support for cohort participation. The consortium promotes widespread collaboration. For junior investigators, the fellowship exchanges and travel awards also foster collaboration, enhance the current science, and improve the training of our future scientists.

全基因组关联研究（GWAS）的联合体经常围绕特定的表型进行组织 例如糖尿病和乳腺癌，以发现与遗传变异的关联。心脏的队列 和基因组流行病学老龄化研究（CHARGE）联盟，而不是由大型- 以人群为基础的队列研究，以促进前瞻性计划的GWAS荟萃分析， 表型从最初的5项研究扩展到10项，CHARGE队列重复测量风险 因素、亚临床疾病指标和心血管事件，所有这些都以标准化的方式收集。 他们的合作代表了一个独特的资源，用于确定与各种疾病相关的遗传位点。 心血管和衰老表型。自2011年以来，在CHARGE基础设施赠款的资助下， （HL 105756），该财团蓬勃发展。使用GWAS和稀有变异数据，CHARGE出版物现在 数量超过643个，许多在高影响力的期刊上。在NHLBI、NHGRI和NIA的资助下， 许多CHARGE小组最近获得了新的遗传学和组学数据：1）全基因组 39，819名受试者的全外显子组序列（WGS）数据; 2）28，346名受试者的全外显子组序列（WES）数据; 3） 16，083例的甲基化数据; 4）12，133例的基因表达数据; 5）25，521例的代谢组学数据;以及6） 基于适体的蛋白质组学数据。CHARGE及其40个活跃的工作组， 并与NIH项目协调，如NHLBI的精准医学Trans-Omics， 定位于适应遗传流行病学的所有三个新方向-大规模合作， 基因组序列数据和其他组学数据。此应用程序新增了CHARGE dbGaP摘要 结果网站用于公开发布摘要结果，分析共享用于汇总分析， 序列数据和组学数据，以及孟德尔随机化委员会的分析支持， 这些创新的方法。这种竞争性更新应用程序的目标是加速发现 通过对基因组数据的稳健分析， 通过整合多种形式的大规模基因组， 规模omics数据。这种竞争性的更新应用程序的目的是：1）提供协调中心一样， 为电话会议、工作组、委员会和会议提供行政支助; 2）组织两次 每年举行一次重要的面对面会议; 3）为提交最佳报告的新调查员提供旅行奖励 CHARGE会议上的演讲或海报摘要; 4）为奖学金提供支持 交换学生，研究员和初级教师花时间在另一个网站上工作的收费 项目;和5）为队列参与提供适度的支持。该联盟促进了广泛的 协作对于初级调查人员，研究金交流和旅行奖励也促进了合作， 加强现有的科学，并改善我们未来科学家的培训。