Research compared genotypes of 1,345 individuals to 987 clinical phenotype measures collected over 59 years.

Investigators completed analyses on a genome-wide scan of a group of two generations of participants from the Framingham Heart Study (FHS). The work produced 17 manuscripts covering topics including cardiovascular disease outcome, breast and prostate cancer, sleep and circadian phenotypes, and diabetes. The research was published on September 19 online in BMC Medical Genetics.

“The Framingham Heart Study 100K project has investigated hundreds of phenotypes and as such it is among the largest genome-wide association studies of its kind, representing the first set of genome-wide association findings from the FHS,” notes Christopher J. O’Donnell, M.D., FHS associate director and senior advisor to the National Heart, Lung and Blood Institute (NHLBI) director for genome research.

The researchers evaluated genotypes from 1,345 FHS volunteers in using the 100K Affymetrix GeneChip Human Mapping Set, which tests subjects’ DNA at 100,000 sites. They then looked for association between the genotypes and 987 clinical phenotype measures collected over 59 years of follow up. These included cardiovascular risk factors and biomarkers, cardiovascular disease, cancer, longevity and aging, and traits in the areas of lung function, sleep, neurology, and renal and endocrine function.

“These results set the stage for the launch of a much larger and more powerful NHLBI-funded, genome-wide association study in the FHS known as SHARe, or SNP Health Association Resource, which will be available in the fall of 2007,”  says Dr. O’Donnell.

The Framingham 100K genome-wide scan results are also available through the database of Genotypes and Phenotypes, dbGaP,  The FHS is supported by the NHLBI and was conducted in collaboration with Boston University School of Medicine and Boston University School of Public Health.

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