Key result
PCSK9 variants occur in ~54% of Vietnamese patients with hypercholesterolemia.
Why the study?
The variants of PCSK9 have not been clarified in the Vietnamese population with hypercholesterolemia.
Observational (n=26)
No
Should not change practice in hypercholesterolemia; leaves open the prevalence and impact of novel PCSK9 variants in Vietnamese patients.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is an enzyme that plays a key role in regulating the circulating low density lipoprotein cholesterol (LDL-C). Among the PCSK9 variants, while gain-of-function mutations aggravate the degradation of LDL receptors, leading to familial hypercholesterolemia (FH), whereas loss-of-function mutations increase LDL receptor levels, lower LDL levels, and prevent coronary heart disease. The variants of PCSK9 have not been clarified in the Vietnamese pop
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Phương et al. (2021) conducted an observational in Hypercholesterolemia (n=26). PCSK9 gene variants vs. Reference sequence (NG_009061) was evaluated on Presence of PCSK9 gene variants. Among 26 Vietnamese patients with hypercholesterolemia, 53.85% carried a total of 60 PCSK9 variants, including 50 newly identified variants.
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