Key result
Genetic screening reveals PCSK9 variants in ~54% of Vietnamese patients with hypercholesterolemia.
Why the study?
Variations in the PCSK9 gene affect LDL receptor degradation and contribute to familial hypercholesterolemia, but molecular insights in Vietnamese cases were needed.
Cross-Sectional (n=26)
No
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a crucial enzyme involved in the regulation of circulating low-density lipoprotein cholesterol (LDL-C). Variations in the PCSK9 gene can have significant effects on LDL receptor degradation—gain-of-function mutations accelerate receptor breakdown and contribute to familial hypercholesterolemia (FH), while loss-of-function mutations increase receptor availability, lower LDL-C levels, and reduce the risk of coronary heart disease. The geneti
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Phương et al. (2021) conducted a cross-sectional in Hypercholesterolemia (n=26). PCSK9 genetic variants vs. Reference sequence was evaluated on Presence of PCSK9 gene variants. Genetic screening of Vietnamese hypercholesterolemia patients identified 60 PCSK9 variants in 53.85% of cases, including 50 novel variants of which 24 were predicted to be damaging.
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