Framingham Heart Study 100K result published

BioMed Central has announced that 17 research articles carried out using genetic data from the Framingham Heart Study (FHS), are being published as a supplement to BMC Medical Genetics.

The collected research, FHS 100K, is the result of cooperation among several research institutions including Boston University School of Medicine and Public Health; the National Heart, Lung and Blood Institute (NHLBI); the National Library of Medicine; and the National Center for Biotechnology Information (NCBI).

FHS 100K will be given unprecedented availability via BioMed Central's open access journal and through NCBI's Database of Genotypes and Phenotypes (dbGaP) http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007. The researchers' decision to publish in BioMed Central's open access journal underlines their collective belief that genetic observations from FHS should be made publicly available and remain an unpatented data resource designed to accelerate scientific discovery.

"BMC Medical Genetics is honored to be the journal which presents these exciting new results to the world," said Melissa Norton, Editor-in-Chief of BMC Medical Genetics. "Inclusion in both our open access journal and in dbGaP will ensure the widest possible access to these materials and will allow researchers to more easily identify high priority findings for replication to build upon the new findings."

The FHS 100K takes its title from the high resolution 100K Affymetrix GeneChip, designed to contain the genetic sequence array of up 100,000 DNA sequences known as single-nucleotide polymorphisms (SNPs). FHS collaborators studied genetic traits, known as phenotypes, and established 8 larger Phenotype Working Groups, overseeing 17 different trait areas including cardiovascular risk factors and biomarkers; subclinical and clinical cardiovascular disease; cancer and longevity; and pulmonary, sleep, neurology, renal and bone domains. Each research article published in the supplement corresponds with one of these areas.

No other study in history has analyzed as many different phenotypic domains as FHS 100K. In addition, many phenotype samples collected through FHS were gathered years before modern therapy and remain undistorted by the effects of contemporary medical treatments, offering pristine samples unattainable in contemporary subjects.

"The Framingham Heart Study 100K effort was made possible by the generosity of our participants who have received examinations and surveillance for almost 60 years," said Dr. Emelia Benjamin, Professor of Medicine at Boston University School of Medicine (BUSM), and Director of the Echocardiography and Vascular Function laboratories at the Framingham Heart Study

Karen Antman, MD, dean of BUSM and provost of Boston University Medical Campus, added, "The Framingham Heart Study dataset is another example of the groundbreaking collaboration of researchers from Boston University Schools of Medicine and Public Health and from the NHLBI. Our researchers make extraordinary contributions that continuously improve the well-being of people all over the world."

Launched in 1948 by National Heart Institute (now NHLBI), the objective of the Framingham Heart Study is to identify the common factors or characteristics that contribute to cardiovascular disease (CVD) by following its development over a long period of time in a large group of participants who had not yet developed overt symptoms of CVD or suffered a heart attack or stroke. The original researchers recruited 5,209 men and women between the ages of 30 and 62 from the town of Framingham, Massachusetts. Those participants have been followed for nearly 60 years and FHS now includes second and third generation participants.

The data from all of the studies will be made available through NHLBI's dbGaP, a database designed to archive and distribute data from genome wide association studies. Researchers around the world will be able to use the results in the database to conduct further research to create new drugs and treatments to benefit patients. In addition, the results from FHS 100K will automatically be transferred from dbGaP into the SNP Health Association Resource (SHARe) project website, a similar database from NHLBI designed for much larger-scale, whole-genome association study. The SHARe project will analyze 550K SNPs in more than 9,000 samples collected by the NHLBI and Boston University School of Medicine for the Framingham Heart Study.