Knowing the genetic cause of high cholesterol predicts disease risk better than cholesterol levels alone, study finds

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 among the nation’s leading providers of value-based care, serving 1.2 million people in urban and rural communities across central and northeastern Pennsylvania. Founded in 1915 by philanthropist Abigail Geisinger, the nonprofit system generates more than $8 billion in annual revenues across 163 care sites — including 10 hospital campuses — and Geisinger Health Plan, with more than half a million members in commercial and government plans. Geisinger College of Health Sciences educates more than 500 medical professionals annually and is conducting more than 1,400 clinical research studies. With more than 27,000 employees, including 1,800 employed physicians and 5,200 registered nurses, Geisinger is among Pennsylvania’s largest employers, having an estimated economic impact of $16.8 billion on the state’s economy. In 2024, Geisinger joined Risant Health, a nonprofit charitable organization created to expand and accelerate value-based care across the country. Learn more at geisinger.org or follow on Facebook, Instagram and LinkedIn.