About this webinar
Recorded On: Wednesday, April 10, 2019
Heart disease is a leading cause of death and disability in Canada and worldwide, which largely results from the insidious process not being identified or treated until it is too late (1). This is best exemplified by patients with familial hypercholesterolemia (FH). FH is the most common autosomal dominant genetic disorder resulting from pathogenic genetic variants in the LDLR, APOB, and/or PCSK9 genes (~1 out of 225 people) (2). These genetic variants cause elevated low-density lipoprotein cholesterol, more commonly known as “bad cholesterol”, and significantly increase these patients’ risk of cardiovascular disease.
Our lab has developed a targeted next-generation sequencing assay that can accurately identify the presence of monogenic FH-causing variants or polygenic causes of hypercholesterolemia in patients with a clinical diagnosis of FH (3, 4). To realize the full value of this research, the results need to be fed back to the patients and their healthcare providers. However, this is currently recommended as best clinical practice for managing FH (5).
A pathogenic variant in LDLR, APOB, or PCSK9 can be identified in 30–80% of patients with clinically-diagnosed familial hypercholesterolemia (FH). Alternatively, ~20% of clinical FH is thought to have a polygenic cause. The cardiovascular disease (CVD) risk associated with polygenic versus monogenic FH is unclear. The objective of this study was to investigate the impact of genotype, including monogenic and polygenic causes of FH, on CVD risk among patients with clinically diagnosed FH. We hypothesized that FH patients with monogenic FH variants and elevated low-density lipoprotein cholesterol polygenic risk scores would have greater risk of CVD than patients in whom no causative variant is identified.
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