title: Effect of E670G Polymorphism in PCSK9 Gene on the Risk and Severity of Coronary Heart Disease and Ischemic Stroke in a Tunisian Cohort.
abstract: The association of E670G (rs505151) polymorphism in PCSK9 gene with an increased risk of coronary artery disease (CAD) and ischemic stroke (IS) was reported in previous studies. We investigated the effect of the E670G (rs505151) on the risk of CAD and IS in a Tunisian cohort. Genotyping of the PCSK9 E670G was performed using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) and then confirmed by direct sequencing. The frequency of the 670G allele was significantly higher in the CAD than in the no-CAD subgroup (0.132 vs. 0.068, p = 0.030). As expected, the incidence of E670G was significantly important in IS subgroup than control group (0.122 vs. 0.073, p = 0.032). Furthermore in CAD patients, the 670G carriers showed significantly increased plasma total cholesterol and LDL-cholesterol levels compared to E670 carriers (6.78 [6.47-7.00] vs. 4.92 [4.02-5.46] mmol/l, p < 0.0001 and 4.60 [4.00-5.04] vs. 3.00 [2.22-3.70] mmol/l p = 0.001, respectively). The risk and severity of CAD were significantly increased in 670G carriers between no-CAD subgroup and CAD patients presenting a stenosis ≥50 % in two or three major coronary arteries (0.068 vs. 0.198, p = 0.001, OR = 3.39 [1.55-7.37]). The E670G polymorphism of the PCSK9 gene is mainly associated with a increased risk and severity of CAD and IS in Tunisian cohort.
authors.affiliation: Research Unit: UR 12ES09 Dyslipidemia and Atherogenesis, Faculty of Medicine, Monastir, 5000, Tunisia, afefslimani@yahoo.com.
authors.forename: Afef
authors.initials: A
authors.lastname: Slimani
authors.forename: Yahia
authors.initials: Y
authors.lastname: Harira
authors.forename: Imen
authors.initials: I
authors.lastname: Trabelsi
authors.forename: Walid
authors.initials: W
authors.lastname: Jomaa
authors.forename: Faouzi
authors.initials: F
authors.lastname: Maatouk
authors.forename: Khaldoun Ben
authors.initials: KB
authors.lastname: Hamda
authors.forename: Mohamed Naceur
authors.initials: MN
authors.lastname: Slimane
mesh_terms: D000368:Aged; D002545:Brain Ischemia / Q000175:diagnosis / Q000235:genetics; D016022:Case-Control Studies; D008078:Cholesterol, LDL / Q000097:blood; D003324:Coronary Artery Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases / Q000235:genetics*; D012307:Risk Factors; D012697:Serine Endopeptidases / Q000235:genetics*; D020521:Stroke / Q000175:diagnosis / Q000235:genetics; D014416:Tunisia
chemical_list: D008078:Cholesterol, LDL; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases