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PCSK9 gene Polymorphism and Assessment of Cardiovascular Risk and Prognosis in Patients With Hyperlipidemia: A

Aibibanmu Aizezi1,2, Fanhua Meng1,2, Xiaolei Li1,2

  • 1Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China.

Journal of Clinical Hypertension (Greenwich, Conn.)
|August 18, 2025
PubMed

Insights

Proprotein convertase subtilisin/kexin type 9 (PCSK9) gene variations in hyperlipidemia patients predict adverse cardiovascular events. PCSK9 genotyping offers a novel tool for personalized risk assessment and treatment decisions.

Area of Science:

  • Cardiovascular Genetics
  • Pharmacogenomics
  • Lipid Metabolism

Background:

  • Proprotein convertase subtilisin/kexin type 9 (PCSK9) polymorphisms show ethnic-specific links to cardiovascular disease risk.
  • The prognostic significance of PCSK9 polymorphisms for major adverse cardiovascular and cerebrovascular events (MACCE) in Asian populations is not well-established.

Purpose of the Study:

  • To investigate the association of specific PCSK9 polymorphisms (rs2483205, rs2495477, rs562556) with metabolic parameters and MACCE risk in hyperlipidemia patients.
  • To develop and validate a genotype-integrated nomogram for predicting MACCE risk.

Main Methods:

  • Prospective cohort study of 1969 hyperlipidemia patients.
  • Evaluation of three PCSK9 polymorphisms (rs2483205, rs2495477, rs562556) and their association with metabolic profiles and MACCE.
  • Development and validation of a nomogram using LASSO regression for MACCE risk prediction.

Main Results:

  • Specific genotypes (rs2483205 TT, rs2495477 GG, rs562556 GG) were significantly linked to atherogenic dyslipidemia (elevated TG, LDL-C, Lp(a)).
  • These PCSK9 genotypes independently predicted MACCE risk (e.g., HR=2.94 for rs2483205 TT).
  • The developed nomogram showed excellent predictive performance (AUC=0.989, C-index=0.868) and clinical utility.

Conclusions:

  • PCSK9 genotyping provides independent prognostic information for MACCE risk stratification in hyperlipidemia.
  • Genotype-specific effects of PCSK9 influence cardiovascular outcomes.
  • The developed nomogram serves as a precision medicine tool for individualized risk prediction and guiding therapeutic strategies.

Keywords:
Asian populationsPCSK9 polymorphismscardiovascular riskhyperlipidemia

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