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Yale study shows how rare genes have big impact on blood pressure
Date:4/6/2008

ividual's risk of developing the condition. In the case of high blood pressure, for instance, large genome-wide studies have thus far found no common variants that are associated with the risk of developing hypertension.

So, scientists like Lifton and his lab members Weizhen Ji and Jia Nee Foo have begun to search for the many rare mutations that might have a larger impact on the risk of inherited diseases on smaller groups of people.

"Collectively, common variants have explained a small fraction of the risk of most diseases in the population, as we would expect from the effects of natural selection,'' Lifton explained. "The question this leaves open is whether many rare variations in genes will collectively account for a large influence on common disease.''

Lifton said the new study underscores the importance of sequencing the genome of many individuals in order to discover disease-causing mutations.

For instance, previous genetic studies of hundreds of families with severely low blood pressure enabled his team to identify the gene mutations used in the study. And one of the genes, ROMK, has turned out to be a particularly promising target for new high blood pressure therapy.

Eventually, scientists may find dozens of genes in which rare mutations individually account for a low percentage of common diseases among individuals, but may collectively account for the burden of common chronic diseases, Lifton said.

Added Levy, "We may have to march down the field from gene to gene to identify other genes where rare variants are contributing to blood pressure variations."


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Contact: Bill Hathaway
william.hathaway@yale.edu
203-432-1322
Yale University
Source:Eurekalert

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