Chapter 2 Genetics of the Framingham Heart Study Population

Diddahally R. Govindaraju, L. Adrienne Cupples, William B. Kannel, Christopher J. O'Donnell, Larry D. Atwood, Ralph B. D'Agostino, Caroline S. Fox, Marty Larson, Daniel Levy, Joanne Murabito, Ramachandran S. Vasan, Greta Lee Splansky, Philip A. Wolf, Emelia J. Benjamin

Research output: Chapter in Book/Report/Conference proceedingChapter

67 Scopus citations


This chapter provides an introduction to the Framingham Heart Study and the genetic research related to cardiovascular diseases conducted in this unique population. It briefly describes the origins of the study, the risk factors that contribute to heart disease, and the approaches taken to discover the genetic basis of some of these risk factors. The genetic architecture of several biological risk factors has been explained using family studies, segregation analysis, heritability, and phenotypic and genetic correlations. Many quantitative trait loci underlying cardiovascular diseases have been discovered using different molecular markers. Additionally, initial results from genome-wide association studies using 116,000 markers and the prospects of using 550,000 markers for association studies are presented. Finally, the use of this unique sample to study genotype and environment interactions is described.

Original languageEnglish (US)
Title of host publicationAdvances in Genetics
EditorsJeffrey Hall
Number of pages33
StatePublished - 2008
Externally publishedYes

Publication series

NameAdvances in Genetics
ISSN (Print)0065-2660

ASJC Scopus subject areas

  • Genetics


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