The Framingham Heart Study 100,000 single nucleotide polymorphisms resource
2007

Framingham Heart Study 100K SNP Genome-Wide Association Study Overview

Sample size: 1345 publication Evidence: moderate

Author Information

Author(s): L. Adrienne Cupples, Heather T. Arruda, Emelia J. Benjamin, Ralph B. D'Agostino Sr., Serkalem Demissie, Anita L. DeStefano, Josée Dupuis, Kathleen M. Falls, Caroline S. Fox, Daniel J. Gottlieb, Diddahally R. Govindaraju, Chao-Yu Guo, Nancy L. Heard-Costa, Shih-Jen Hwang, Sekar Kathiresan, Douglas P. Kiel, Jason M. Laramie, Martin G. Larson, Daniel Levy, Chun-Yu Liu, Kathryn L. Lunetta, Matthew D. Mailman, Alisa K. Manning, James B. Meigs, Joanne M. Murabito, Christopher Newton-Cheh, George T. O'Connor, Christopher J. O'Donnell, Mona Pandey, Sudha Seshadri, Ramachandran S. Vasan, Zhen Y. Wang, Jemma B. Wilk, Philip A. Wolf, Qiong Yang, Larry D. Atwood

Primary Institution: National Heart Lung and Blood Institute's Framingham Heart Study

Hypothesis

Common genetic variants contributing to phenotypic variation can be detected through a genome-wide association study (GWAS).

Conclusion

The study created a resource of results from a genome-wide association study in the Framingham Heart Study, which needs replication.

Supporting Evidence

  • The study involved 1345 participants from the Framingham Heart Study.
  • Results were based on 70,897 SNPs with specific quality criteria.
  • Data is available for public access on the NCBI dbGaP website.

Takeaway

Scientists looked at genes in a big group of people to see how they might affect health traits, and they found a lot of interesting information that needs to be checked again.

Methodology

Participants were genotyped using the 100K Affymetrix GeneChip and their genetic data was analyzed for associations with 987 phenotypes.

Potential Biases

Potential for false positives due to multiple testing and the nature of the GWAS.

Limitations

The results are considered hypothesis-generating and need to be replicated in future studies.

Participant Demographics

Participants were predominantly white of European descent, with a mean age of 32 years and 54% women.

Digital Object Identifier (DOI)

10.1186/1471-2350-8-S1-S1

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