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Adv Genet. 2008;62:33-65. doi: 10.1016/S0065-2660(08)00602-0.

Genetics of the Framingham Heart Study population.

Author information

1
Department of Neurology, Boston University School of Medicine, Boston, Massachusetts 02118.
2
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118.
3
NHLBI's Framingham Heart Study, Framingham, Massachusetts 01702.
4
Department of Neurology, Boston University School of Medicine, Boston, Massachusetts 02118; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118.
5
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118; NHLBI's Framingham Heart Study, Framingham, Massachusetts 01702.
6
NHLBI's Framingham Heart Study, Framingham, Massachusetts 01702; Section of General Internal Medicine, Boston University School of Medicine, Boston, Massachusetts 02118.
7
NHLBI's Framingham Heart Study, Framingham, Massachusetts 01702; Department of Cardiology, Boston University School of Medicine, Boston, Massachusetts 02118; Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts 02118.

Abstract

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.

PMID:
19010253
PMCID:
PMC3014216
DOI:
10.1016/S0065-2660(08)00602-0
[Indexed for MEDLINE]
Free PMC Article

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