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Study participants with a genetic variant linked to high cholesterol were more likely to develop heart disease

DANVILLE, Pa. – Having a genetic cause of high cholesterol increases the risk of heart disease more than having high cholesterol levels alone, a Geisinger-led study found.
An estimated 6% to 13% of Americans have very high levels of low-density lipoprotein (LDL) cholesterol, known as severe hypercholesterolemia. These high LDL levels increase the risk of heart disease, heart attack and stroke.
The research team included Geisinger investigators Matthew Oetjens, Ph.D., M.S., Alexander Berry, Ph.D., Laney Jones, PharmD, and Samuel Gidding, M.D. They evaluated genetic data from 11,738 UK Biobank participants who had high LDL levels. The team observed a small difference in the rate of heart disease between those with the lowest LDL and highest LDL levels. However, when participants were grouped by the specific genetic cause of their condition, there were distinct differences in the rates of disease. For example, people with a single gene variant linked to high cholesterol or with elevated lipoprotein (a), a form of LDL cholesterol, had a significantly increased risk of future disease when compared to the rest of the study participants.
The results were published in Arteriosclerosis, Thrombosis and Vascular Biology.
“This study demonstrates the potential for genetic data to inform risk management and clinical care of patients with high cholesterol,” said Dr. Oetjens. 
As part of Geisinger’s National Institutes of Health-funded effort, RISK-FH, researchers will further investigate the genetics of heart disease risk using biobanks including Geisinger’s MyCode Community Health Initiative, Mt. Sinai Health System’s BioMe, and NIH’s All of Us.

About Geisinger
Geisinger is committed to making better health easier for the more than 1 million people it serves. Founded more than 100 years ago by Abigail Geisinger, the system now includes 10 hospital campuses, a health plan with more than half a million members, a research institute and the Geisinger College of Health Sciences, which includes schools of medicine, nursing and graduate education. With more than 25,000 employees and 1,700+ employed physicians, Geisinger boosts its hometown economies in Pennsylvania by billions of dollars annually. Learn more at or connect with us on Facebook, Instagram, LinkedIn and Twitter.


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