Background: the association of gain-of-function polymorphisms in PCSK9 gene has been proposed as a risk factor for coronary atherosclerotic disease, and recently with atherosclerotic ischemic stroke.
Aims: we investigated the effect of E607G single nucleotide polymorphism (SNP) on the risk association of ischemic atherosclerotic stroke in two Latin-American (Costa Rica and a Mexico) cohorts.
Materials and methods: Cases were selected according to A1 ASCOD phenotype criteria for atherosclerotic stroke from databanks in both countries, matched with stroke-free controls. Genotyping of the SNP was performed using real time polymerase chain reaction-based restriction fragment length polymorphism, and then confirmed by direct sequencing. Univariate analysis for high-risk genotype and Hardy-Weinberg equilibrium was assessed. Ancestry was confirmed for both populations.
Results: One hundred ninety six (100 Costa Rican and 96 Mexican) ischemic atherotrombotic stroke cases, and 198 (100 Costa Rican and 98 Mexican) age-, gender- and risk factors-matched controls were included. Lipid profiles among cases and controls were consistent, with no significant differences among basal values. Main risk factors were higher in cases than in controls: hypertension (74.1% vs. 57.4%), known hypercholesterolemia (59.9% vs. 35.7%), diabetes (42.1% vs. 27%), and current smoking (34.5% vs. 21.4%). Partial anterior circulation infarction (59.4%), mainly from extracraneal atherosclerotic source (61.2%), with a median NIHSS score of 7, were the most important characteristics of cases included. High-risk genotype profile from E670G (GG), was present only in one control and one case from the entire population, with no association found for the homozygous model.
Conclusion: the E607G polymorphism of the PCSK9 gene is not associated with an increased risk and severity of ischemic stroke in a Costa Rican and Mexican cohort.
PCSK9 gene, E607G, R218S, F216L, atherosclerotic stroke, polymorphism,