From Deseret News archives:

Heart-disease researchers turn to genealogy

Published: Thursday, April 26, 2007 12:08 a.m. MDT
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LDS Hospital cardiology researchers are linking genealogy records of 10 million people from the Intermountain region with its own clinical data to study a killer — heart disease.

On Wednesday they launched the Intermountain Genealogical Registry, with a goal of finding the genetic underpinnings of various forms of heart disease to aid diagnosis and treatment.

"A lot of studies demonstrate that family history is important, that there's a genetic component," said Dr. Brent Muhlestein, director of cardiovascular research at LDS Hospital. "It's a large dream to figure out the genes and use the information to tailor and devise therapies, but it's very hard."

About 70 million Americans have heart disease. Researchers believe multiple genes contribute to types of heart disease. "Only a few heart problems, like Long QT, have been associated with specific-point mutations," Muhlestein said.

Most research centers on one of three approaches: linkage analysis of siblings with a heart disease that searches for genetic matches, study of the proteins involved in a disease to see if genes associated with them are good "candidate genes," and examination of families with heavy disease burden to see whether phenotyping will identify responsible genes.

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For 15 years, patients treated in the heart cath lab at LDS Hospital have been asked for blood samples that can be added to a database created by the researchers, who have kept frozen DNA samples of those who consent, along with four-generation genealogy charts, some 15,000 strong. The new registry builds on that. "We just need to know who's related to who," said Muhlestein. "Once we know the families, we can use DNA of related people who have heart disease vs. families who don't have it and use chip technology to do an analysis, half a million genes at a time, to find patterns."

LDS Hospital hired a private company to mine publicly available genealogical data to construct the new database. It will be linked to the patient clinical information and genealogy charts to pinpoint relationships and help identify both those families with a lot of heart disease and those without it, said Benjamin Horne, Ph.D., cardiovascular clinical epidemiologist. Information from heart patients will be added to the database on an ongoing basis.

Researchers suspect genetics makes a substantial contribution to heart diseases, Horne said. "But there are a whole list of other factors that are not genetic, such as smoking, physical activity and being sedentary and poor diet. ...

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