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Study Description

GWAS have successfully identified genetic loci associated with a variety of conditions such as type 2 diabetes and coronary disease. The large number of statistical tests required in GWAS has posed a special challenge because few studies that have DNA and high-quality phenotype data are sufficiently large to provide adequate statistical power for detecting small to modest effect sizes. Even before the era of GWAS, the requirement for large sample sizes and the importance of replication have served as powerful incentives for collaboration. Meta-analyses combining summary data from multiple sources have improved the ability to detect new loci. The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium was formed to facilitate GWAS meta-analyses and replication among multiple large and well-phenotyped cohort studies. The design of the CHARGE Consortium was formed initially from 5 prospective cohort studies from the United States and Europe: the Age, Gene/Environment Susceptibility (AGES) - Reykjavik Study, the Atherosclerosis Risk in Communities (ARIC) Study, the Cardiovascular Health Study (CHS), the Framingham Heart Study (FHS), and the Rotterdam Study (RS). Additional studies have expanded the CHARGE consortium based upon the phenotypes and willingness to share information across the research community.

In order to facilitate investigators across the world to examine relationships between phenotypes and genetic markers within CHARGE published reports, an open site is made available on dbGaP that provides the rsID and the p-value for inspection. Access to detailed summary statistics (including minor allele frequency, odds ratio/effect size) requires approval of a Data Access Request (DAR).

  • Study Weblinks:
  • Study Design:
    • Prospective Longitudinal Cohort
  • Study Type:
    • Cohort
    • Nested Case-Control
    • Family
    • Longitudinal
  • Number of study subjects that have individual-level data available through Authorized Access:
Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. The site also contains data dictionaries, variable summaries, documents, and truncated analyses, whenever available.

Study Inclusion/Exclusion Criteria

To be included in a CHARGE study, a cohort has to provide summary statistics for meta-analyses according to the specifications of the CHARGE Working Group. The summary statistics are based upon an agreed-upon analytic plan that provides guidance for all protocols and software.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Affymetrix Mapping250K_Nsp 262264 33767 With/without 50K supplement
Affymetrix 500K Set comprises Mapping250K_Nsp and Mapping250K_Sty Arrays
Whole Genome Genotyping Affymetrix Mapping250K_Sty 238304 33766 With/without 50K supplement
Affymetrix 500K Set comprises Mapping250K_Nsp and Mapping250K_Sty Arrays
Whole Genome Genotyping Illumina HumanCNV370-Duo N/A N/A
Whole Genome Genotyping Illumina HumanHap550v3.0 561466 51468
Whole Genome Genotyping Illumina Human610_Quadv1_B 601273 1048904
Whole Genome Genotyping Affymetrix AFFY_6.0 934940 52074
Study History

A major goal of the CHARGE Consortium is to collaboratively produce a series of jointly coordinated, high-impact publications that describes the collaborative results of genome-wide association scans (GWAS) for a number of cardiovascular, lung, blood and aging phenotypes. The focal point of the design, analysis, interpretation and publication of research results for each specific phenotype is one of several collaborative phenotype Working Groups (WGs) that have been convened by the CHARGE Research Steering Committee (RSC). One analytic strategy that is being undertaken by many of the CHARGE WGs is to conduct a meta-analysis of GWAS results for single phenotypes common to multiple CHARGE cohorts. The actions of members of CHARGE WGs from each of the individual CHARGE cohorts and other collaborating cohorts should support this research goal. The principles are meant to encourage collaborating investigators to conduct their research in the spirit of collaboration and trust and with transparency regarding potentially sensitive issues about the use of shared data prior to publication.

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Genes
Links to Related Resources
Authorized Data Access Requests
Study Attribution