Influence of PCSK9 gene E670G polymorphism on the risk of atherosclerotic coronary heart disease and plasma lipid level / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the influence of PCSK9 gene E670G polymorphism on the risk of coronary heart disease (CHD) among Chinese patients from Tianjin, and to compare the effect of atorvastatin treatment on CHD patients with various PCSK9 E670G genotypes.</p><p><b>METHODS</b>Seven hundred and seventy-eight patients undergoing coronary angiography (CAG) were classified into CHD group (n = 502) and control group (n = 276). Total cholesterol (TC) and triglyceride (TG) were determined for all patients. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to determine the E670G genotype for each patient. For 231 CHD patients who had taken atorvastatin calcium for 12 weeks and completed the follow-up, the lipid profile was determined again.</p><p><b>RESULTS</b>The distribution of PCSK9 E670G genotype between the CHD and control groups differed significantly (P< 0.01). The frequencies of G allele were 15.99% and 9.34% in the CHD and control group, respectively, which showed a statistical significance (P< 0.01). Carriers of G allele had a higher risk of CHD than those with A allele (OR=1.847, 95%CI 1.301-2.622, P< 0.01). Among CHD patients, those carrying G allele had higher TC and TG levels than those with AA genotype, while patients with a GG genotype had higher level of low density lipoprotein cholesterol (LDL-C) than those with a AA genotype (P< 0.05). Logistic regression analysis indicated that high density lipoprotein cholesterol (HDL-C) is a protective factor of CHD (OR=0.203, 95%CI 0.100-0.414, P< 0.05). After treatment with atorvastatin, LDL-C level decreased more significantly in those with an AA genotype compared with AG and GG genotypes (P< 0.05).</p><p><b>CONCLUSION</b>The E670G polymorphism of the PCSK9 gene is associated with the lipid levels and risk for CHD.</p>