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Slimani A.,Research Unit UR 12ES09 Dyslipidemia and Atherogenesis | Harira Y.,University of Monastir | Trabelsi I.,Research Unit UR 12ES09 Dyslipidemia and Atherogenesis | Jomaa W.,Fattouma Bourguiba Hospital | And 3 more authors.
Journal of Molecular Neuroscience | Year: 2014

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. © 2014 Springer Science+Business Media.


Slimani A.,Research Unit UR 12ES09 Dyslipidemia and Atherogenesis | Hrira M.Y.,University of Monastir | Najah M.,Research Unit UR 12ES09 Dyslipidemia and Atherogenesis | Jomaa W.,Fattouma Bourguiba Hospital | And 10 more authors.
Molecular and Cellular Probes | Year: 2015

The c.61_63dupCTG (L10) allele of rs72555377 polymorphism in PCSK9 has been reported to be associated with low-density lipoprotein-cholesterol (LDL-C) levels and with a decreased risk of coronary artery disease (CAD). We investigated the effect of two known alleles for rs72555377, L10 and L11, on the risk of CAD in a Tunisian cohort (218 patients diagnosed by angiography and 125 control subjects). Two subgroups of patients were defined by their level of stenosis: ≥50% for CAD and <50% for no-CAD. The genotypes were obtained by the size measurement of fluorescent-labeled PCR products. We identified a novel allele for the rs72555377 polymorphism: an in-frame deletion, c.61_63delCTG (L8). The frequency of the L10 allele was significantly higher in the no-CAD subgroup than in the CAD subgroup (0.210 vs 0.114, p=0.045), and than in the subgroup of CAD patients presenting a stenosis ≥50% in two or three major coronary arteries (0.210 vs 0.125, p=0.028). Multiple regression analysis showed that the L10 allele was significantly associated with a reduced risk of CAD (p=0.049, OR=0.51[0.26-1.00]), and with its reduced severity (p=0.045, OR=0.44[0.20-0.98]). The L10 allele is associated with a reduced risk and severity of CAD, seemingly independently of its LDL-lowering effect, suggesting a direct effect of PCSK9 on atherogenesis. © 2014 Elsevier Ltd.


Chehaibi K.,Research Unit UR 12ES09 Dyslipidemia and Atherogenesis | Nouira S.,CHU Fattouma Bourguiba | Mahdouani K.,Molecular Biology Laboratory | Hamdi S.,Fattouma Bourguiba Hospital | And 2 more authors.
Journal of Molecular Neuroscience | Year: 2014

Peroxisome proliferator-activated receptor γ (PPARγ) is a ligand-activated transcription factor involved in the regulation of lipid metabolism, diabetes, obesity, atherogenesis and inflammation. PPARγ genetic variation has been associated with metabolic and cardiovascular diseases. The aim of this study was to explore, for the first time, the relationship between PPARγ C161T polymorphism and the risk of ischemic stroke (IS) among patients with type 2 diabetes mellitus (T2DM). A total of 196 patients with IS (117 diabetics and 79 nondiabetics) and 192 controls were recruited to enroll in this study. PPARγ C161T genotyping was performed by PCR-RFLP technique. The 161T allele as compared with C allele was found to be higher in controls than in IS patients (with or without T2DM). After adjusting for multiple risk factors, the T allele carriers had significantly reduced IS risk (OR = 0.575, 95 % CI 0.348–0.951, p = 0.030) compared to the CC homozygotes which increased significantly the risk in IS patients with T2DM (OR = 1.85, 95 % CI 1.23–2.62). Moreover, the triglycerides (TG) and ApoB levels in CC homozygote carriers were significantly higher than those in T allele carriers. These results indicate that the C161T of PPARγ may reduce the risk of IS by modulation of adipose metabolism especially TG and ApoB in IS patients with T2DM. © 2014, Springer Science+Business Media New York.


Chehaibi K.,Research Unit UR 12ES09 Dyslipidemia and Atherogenesis | Hrira M.Y.,Research Unit UR 07 06 | Nouira S.,CHU Fattouma Bourguiba | Maatouk F.,Fattouma Bourguiba Hospital | And 2 more authors.
Journal of the Neurological Sciences | Year: 2014

Matrix metalloproteinases (MMPs) play an important role in early atherosclerosis, extracellular matrix remodeling, plaque rupture and myocardial infarction. MMP gene polymorphisms contribute to the risk of developing cardiovascular diseases. In this study, we investigated, for the first time, the association between MMP-1-16071G/2G, MMP-12 -82A/G and MMP-12 1082A/G genotypes and haplotypes and the risk of ischemic stroke (IS) among patients with type 2 diabetes mellitus (T2DM). To examine whether these genetic polymorphisms are associated with susceptibility to IS, 196 patients with IS and 192 controls were examined by PCR-based RFLP. When the analyses were adjusted for multiple risk factors, no interaction between T2DM and MMP-1-1607 1G/2G polymorphism on the risk of ischemic stroke was found (p = 0.074). However, MMP-12 polymorphisms genotypes were associated with the higher risk of IS in diabetic patients compared with total patients. The -82G-1082G haplotype of MMP-12 polymorphisms was associated with higher risk of ischemic stroke in diabetic patients [AOR = 2.33; 95% CI (1.25-3.62), P = 0.032]. These findings showed that there was an important joint effect of the MMP-12 polymorphisms and T2DM on the risk of IS and therefore it can be considered as a potential marker of cerebrovascular disorders in diabetic patients. © 2014 Elsevier B.V. All rights reserved.


Najah M.,Research Unit UR 12ES09 Dyslipidemia and Atherogenesis | Youssef S.M.,Research Unit UR 12ES09 Dyslipidemia and Atherogenesis | Yahia H.M.,Research Unit 07 UR 06 | Afef S.,Research Unit UR 12ES09 Dyslipidemia and Atherogenesis | And 5 more authors.
Diagnostic Pathology | Year: 2013

Background: Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investigated two unrelated Tunisian patients, born from consanguineous marriages, with severe deficiency of plasma low-density lipoprotein (LDL) and apo B. Methods: Intestinal biopsies were performed and The MTTP gene was amplified by Polymerase chain reaction then directly sequenced in patients presenting chronic diarrhea and retarded growth. Results: First proband was homozygous for a novel nucleotide deletion (c. 2611delC) involving the exon 18 of MTTP gene predicted to cause a non functional protein of 898 amino acids (p.H871I fsX29). Second proband was homozygous for a nonsense mutation in exon 8 (c.923 G > A) predicted to cause a truncated protein of 307 amino acids (p.W308X), previously reported in ABL patients. Conclusions: We discovered a novel mutation in MTTP gene and we confirmed the diagnosis of abetalipoproteinemia in new Tunisian families. Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/8134027928652779. © 2013 Najah et al.; licensee BioMed Central Ltd.

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