Impact of Genetic Diversity of PCSK9 Polymorphisms on Coronary Artery Disease in a Sample of Iraqi Individuals
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Department of Biochemistry, College of Medicine, University of Kufa, Najaf, Iraq, Iraq
Submission date: 2025-07-14
Final revision date: 2025-10-09
Acceptance date: 2026-01-12
Publication date: 2026-01-30
Corresponding author
Ruaa Heyder Hadi
Department of Biochemistry, College of Medicine, University of Kufa, Najaf, Iraq, Iraq
Wiadomości Lekarskie 2026;(1):69-77
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ABSTRACT
Aim:
Aim: To assess the association of PCSK9 SNPs (rs2483205, rs2479394) with CAD susceptibility in an Iraqi population.
Material and methods:
Materials and Methods: A case-control study recruited 110 CAD patients, angiographically confirmed, and 110 age-/sex-matched healthy controls. Serum PCSK9 was quantified by ELISA, and lipid profiles were analyzed enzymatically. Genotyping for rs2483205 (C/T) and rs2479394 (G/A) was performed using ARMS-PCR. Associations were evaluated using logistic regression, adjusting for age and sex, haplotype analysis, and genotype-phenotype correlations.
Results:
Results: CAD patients exhibited significantly higher PCSK9 levels (54.12 ± 19.04 vs. 20.94 ± 17.72 ng/mL, *p* < 0.0001), LDL-C, TG, and lower HDL-C (p ≤ 0.005) versus controls. Genotype analysis revealed a significant protective effect of the rs2479394 G/A genotype against CAD (OR = 0.21, 95% CI: 0.04–1.08, *p* = 0.024). The rs2483205 SNP showed no significant association. Haplotype analysis identified four major haplotypes; T-A demonstrated significant protection (OR = 0.45, 95% CI: 0.21–0.88, p = 0.020). No significant associations were found between rs2479394 genotypes and phenotypic parameters (blood pressure, lipids, PCSK9) in CAD patients.
Conclusions:
Conclusion: The rs2479394 G/A genotype and T-A haplotype are associated with reduced CAD risk in Iraqis, suggesting a protective role for specific PCSK9 variants. Elevated serum PCSK9 and dyslipidemia were confirmed in CAD patients, but rs2479394 did not correlate with these phenotypic traits.