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[【学科前沿】] Framingham心脏研究即将揭开冠心病的遗传革命

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发表于 2007-10-11 11:49:46 | 显示全部楼层 |阅读模式
Genetic Data From Framingham Heart Study to Be Made Available

October 9, 2007 (Bethesda, MD) - The National Institutes of Health (NIH) is making available a database of genetic and clinical data from large population-based studies, starting with the landmark Framingham Heart Study, which should help in understanding the genetic basis of heart disease and other conditions.

Called SHARe (SNP Health Association Resource), the web-based data set is funded by the NIH's National Heart, Lung, and Blood Institute (NHLBI) [1].

Framingham SHARe includes data on more than 9300 participants spanning three generations, including more than 900 families, who had their DNA tested for 550 000 genetic variations (single nucleotide polymorphisms [SNPs]). In addition, the participants' clinical data gathered during the study, such as test results or weight, are included. SHARe will enable researchers to relate study participants' genetic variations with their clinical and laboratory test results.

Data from ongoing Framingham Heart Study research as well as from other large studies will continue to be added to the database.

\"The widespread availability of Framingham Heart Study data provides unprecedented opportunities to investigate the connections between genes and disease,\" said Health and Human Services (HHS) secretary Mike Leavitt. \"SHARe represents a major milestone in moving toward an era of personalized health care--a future in which the ways we prevent, diagnose, and treat health problems are tailored to an individual's genetic makeup.\"

NHLBI director Dr Elizabeth Nabel said, \"As one of the most comprehensive studies ever undertaken, the Framingham Heart Study will play a vital role in laying the foundation for this vast data set to help researchers link genes and disease.\"

Dr Christopher O'Donnell, associate director of the Framingham Heart Study and scientific director of Framingham SHARe, says: \"Analyzing individual-level data with computer programs, researchers will be able to search for new connections between genetic variations and phenotypes such as high cholesterol. The thousands of Framingham participants--some of whom have been monitored for almost 60 years--have already contributed greatly to our understanding of the role of risk factors for heart disease and other conditions, and now they will contribute a wealth of new and detailed information about the inherited basis of these conditions.\"

Dr Eric Topol (Scripps Translational Science Institute, San Diego, CA) commented to heartwire: \"This is certainly going to be a valuable resource for the cardiovascular genomics community. Having a large, exceptionally well-characterized cohort followed for decades with genomewide SNP/variant coverage is far better than waiting for years for prospective studies to accrue. It’s terrific that the NHLBI made this possible.\"

SHARe is accessed through the database of Genotypes and Phenotypes (dbGaP), a web-based collection of data from studies that explore the associations between genes and observable traits, such as weight, cholesterol levels, or the presence or absence of a disease. Launched in December 2006, dbGaP was developed and is operated by the National Center for Biotechnology Information (NCBI), also part of the NIH [2]. Researchers interested in applying for access to individual-level Framingham SHARe data should follow the directions on the website
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