Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes
2007

Genome-wide associations for cardiovascular disease outcomes

Sample size: 1345 publication Evidence: moderate

Author Information

Author(s): Larson Martin G, Atwood Larry D, Benjamin Emelia J, Cupples L Adrienne, D'Agostino Ralph B Sr, Fox Caroline S, Govindaraju Diddahally R, Guo Chao-Yu, Heard-Costa Nancy L, Hwang Shih-Jen, Murabito Joanne M, Newton-Cheh Christopher, O'Donnell Christopher J, Seshadri Sudha, Vasan Ramachandran S, Wang Thomas J, Wolf Philip A, Levy Daniel

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

Hypothesis

This study investigates the genetic associations of single nucleotide polymorphisms (SNPs) with major cardiovascular disease outcomes.

Conclusion

No association attained genome-wide significance, but several intriguing findings emerged, particularly the replication of associations of chromosome 9p21 with major cardiovascular disease.

Supporting Evidence

  • Six associations yielded p < 10-5.
  • The lowest p-values for each CVD trait were as follows: major CVD, rs499818, p = 6.6 × 10-6.
  • Associations of a 13 Kb region on chromosome 9p21 with major CVD were confirmed.
  • Additional studies are needed to validate these results.

Takeaway

The study looked at how genes might be linked to heart diseases in a large group of people, but didn't find any strong evidence that could change how we treat these diseases right now.

Methodology

The study analyzed associations of 70,987 SNPs to four major cardiovascular disease outcomes using proportional hazards models and generalized estimating equations.

Potential Biases

The study may have underestimated associations due to poor coverage of candidate genes by the SNPs used.

Limitations

The study design may have introduced survival bias, and the modest number of events limited the power to detect associations.

Participant Demographics

Participants were from the Framingham Heart Study, with a mean age of 33 years at entry and 54% women.

Statistical Information

P-Value

p = 6.6 × 10-6 for major CVD

Statistical Significance

p<10-5

Digital Object Identifier (DOI)

10.1186/1471-2350-8-S1-S5

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