Genetics of Familial Hypercholesterolemia

Published by Luke Morais on

Genetics of Familial Hypercholesterolemia


What is Familial Hypercholesterolemia?

Familial hypercholesterolemia (FH) affects the way the body processes cholesterol. As a result, people with FH have a higher risk of heart disease and a greater risk of early heart attack. The genetic changes that cause FH are inherited. The condition is present from birth, but symptoms may not appear until adulthood. People who inherit the condition from both parents usually develop symptoms in childhood. 

What are LDL and HDL cholesterol?

Cholesterol is a fatty substance that is used by our body to create cells, hormones, bile acids, Vitamin D and other substances. It travels through the blood on proteins called “lipoproteins.” Two types of lipoproteins carry cholesterol throughout the body. LDL (low-density lipoprotein) cholesterol makes up most of your body’s cholesterol. High levels of LDL cholesterol raise your risk for heart disease and stroke. HDL (high-density lipoprotein) cholesterol absorbs cholesterol in the blood and carries it back to the liver. The liver then flushes it from the body. 

How was the research completed?

In this study, researchers will examine a genetic score made up of 22 specific DNA markers. These markers link to levels of LDL cholesterol in people with FH. Researchers will use data from BioVU to test the score in Caucasians and African Americans. They will test if adding other genetic markers linked to HDL cholesterol levels could improve the ability to predict how bad a person may develop FH.

What is the importance of this study?

This study will allow for new discoveries of genetics of FH. The results can help guide clinical practice and improve the outcomes of patient care.