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Study Description

This substudy phs000342 Framingham SHARe contains 100K and 550K genotypes, produced as part of NHLBI's SNP Health Association Resource (SHARe) project. It also contains 4.3 million genotypes produced under Illumina's Fast Track Genotyping Service. Summary level phenotypes for the Framingham Cohort study participants can be viewed at the top-level study page phs000007 Framingham Cohort. Individual level phenotype data and molecular data for all Framingham top-level study and substudies are available by requesting Authorized Access to the Framingham Cohort study phs000007.

Framingham Heart Study SHARe Genome-Wide Association Study. In 2007, the FHS entered a new phase with the conduct of genotyping for the FHS SHARe project, for which genotyping was conducted using approximately 550,000 SNPs (Affymetrix 500K mapping array plus Affymetrix 50K supplemental array) in over 9,300 subjects from the three generations of subjects (including over 1500 families). The SHARe database is housed at NCBI's dbGaP and contains all 550,000 SNPs as well as SNP and microsatellite genotyping conducted previously in the FHS.

100K Genome-Wide Association Study and Results Browser. A subset of 1345 adult participants (original cohort and offspring) of the largest 310 pedigrees in the FHS, many biologically related, was genotyped with the 100K Affymetrix GeneChip. These genotypes were used to assess their contribution to a wide range of traits collected in FHS over 59 years of follow up, including: cardiovascular risk factors and biomarkers; subclinical and clinical cardiovascular disease; cancer and longevity traits; and traits in pulmonary, sleep, neurology, renal, and bone domains. Genome-wide variance component linkage and population and family-based association tests were conducted. An overview manuscript, as well as 17 manuscripts describing the unreplicated results of analyses of the various phenotypes, was published in a supplement of BMC Medical Genetics in September 2007. A link to the full disclosure results of these analyses is available through dbGaP on the Analyses page.

Illumina HumanOmni5M-4v1 Array. In 2011, genotyping of approximately 4.3 million SNPs was conducted in subset of 2500 Framingham Offspring Cohort participants using the Illumina HumanOmni5M-4v1 array designed to target variation down to 1% minor allele frequency. This genotyping was produced at no charge by Illumina under an agreement between Illumina and Boston University.

June 2014: Addition to the FHS SHARe are new genotypes of rare variants in genomic regions associated with risk of type 2 diabetes (T2D) or diabetes related quantitative traits that are not part of extant genotyped or imputed GWAS data in Framingham Heart Study cohorts. This genotyping was produced using a TaqMan ABI PRISM 7700 HT Sequence Detection System (Applied Biosystems, Foster City, CA) at the Joslin Diabetes Center Genetics and Epidemiology Research Core under the R01 DK078616 (to J.B. Meigs) NIH Grant.

Authorized Access
Publicly Available Data
  Link to other NCBI resources related to this study
Study Inclusion/Exclusion Criteria

A description of the Design of the Original Cohort can be found at Dawber TR, Meadors GF, and Moore FEJ. Epidemiological approaches to heart disease: the Framingham Study. Am J Public Health 1951; 41:279-86.

A description of the Design of the Offspring Cohort can be found at Feinleib M, Kannel WB, Garrison RJ, et al. (1975) The Framingham Offspring Study. Design and preliminary data. Prev Med 4:518-25.

A description of the Design of the Third Generation Cohort can be found at Splansky GL et al. The Third Generation Cohort of the National Heart, Lung, and Blood Institute's Framingham Heart Study: Design, Recruitment, and Initial Examination. Am J Epidemioly 2007 Mar 19 [Epub ahead of print].

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Affymetrix HuGeneFocused50K_Affy 49214 52071
Whole Genome Genotyping Affymetrix Mapping250K_Nsp 262264 33767 Affymetrix 500K Set comprises Mapping250K_Nsp and Mapping250K_Sty Arrays
Whole Genome Genotyping Affymetrix Mapping250K_Sty 238304 33766 Affymetrix 500K Set comprises Mapping250K_Nsp and Mapping250K_Sty Arrays
Whole Genome Genotyping Affymetrix Mapping50K_Hind240 57449 33750 Affymetrix 100K Set comprises Mapping50K_Hind240 and Mapping50K_Xba240 Arrays
Whole Genome Genotyping Affymetrix Mapping50K_Xba240 58960 33751 Affymetrix 100K Set comprises Mapping50K_Hind240 and Mapping50K_Xba240 Arrays
Whole Genome Genotyping Illumina HumanOmni5-Quad 4301332 N/A
Study History

Research milestones of the Framingham Heart Study can be found at http://www.framinghamheartstudy.org/about/milestones.html.

The Generation 1 (or Original) cohort Exam 1 took place between 1948 and 1953. Biennial exams have continued to the present. Exam 29 took place between 2006 and 2007. Exam 30 began in 2008.

The Generation 2 (or Offspring) cohort Exam 1 took place between 1971 and 1975. This cohort on average has been examined every three to four years. However, there was an eight year gap between Exam 1 and Exam 2 and a seven year gap between Exam 7 and Exam 8. Exam 8 took place between 2005 and 2008.

The Generation 3 cohort Exam 1 took place between 2002 and 2005. Exam 2 began in 2008.

The New Offspring Spouse cohort Exam 1 took place between 2003 and 2005. Exam 2 began in 2008.

Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Authorized Data Access Requests
Study Attribution
  • Institutions
    • The National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
    • Boston University, Boston, MA, USA.
    • FHS Acknowledgement Statements.