Article
Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology - 1 Jul 2024
Trinder Mark, Cermakova Lubomira, Ruel Isabelle, Baass Alexis, Paquette Martine, Wang Jian, Kennedy Brooke A, Hegele Robert A, Genest Jacques, Brunham Liam R
Abstract excerpt
BACKGROUND: Heterozygous familial hypercholesterolemia (FH) is among the most common genetic conditions worldwide that affects ≈ 1 in 300 individuals. FH is characterized by increased levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of coronary artery disease (CAD), but there is a wide spectrum of severity within the FH population. This variability in expression is incompletely explained...
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