BackgroundThe importance of apolipoprotein E (APOE) in lipid and lipoprotein metabolism is well established. However, the impact of APOE polymorphisms has never been investigated in an Algerian population. This study assessed, for the fist time, the relationships between three APOE polymorphisms (epsilon, rs439401, rs4420638) and plasma lipid concentrations in a general population sample from Algeria.MethodsThe association analysis was performed in the ISOR study, a representative sample of the population living in Oran (787 subjects aged between 30 and 64). Polymorphisms were considered both individually and as haplotypes.ResultsIn the ISOR sample, APOE ϵ4 allele carriers had higher plasma triglyceride (p=0.0002), total cholesterol (p=0.009) and LDL-cholesterol (p=0.003) levels than ϵ3 allele carriers. No significant associations were detected for the rs4420638 and rs439401 SNPs. Linkage disequilibrium and haplotype analyses confirmed the respectively deleterious and protective impacts of the ϵ4 and ϵ2 alleles on LDL-cholesterol levels and showed that the G allele of the rs4420638 polymorphism may exert a protective effect on LDL-cholesterol levels in subjects bearing the APOE epsilon 4 allele.ConclusionOur results showed that (i) the APOE epsilon polymorphism has the expected impact on the plasma lipid profile and (ii) the rs4420638 G allele may counterbalance the deleterious effect of the ϵ4 allele on LDL-cholesterol levels in an Algerian population.

Background: Metabolic syndrome (MetS) represents a combination of at least three primary metabolic abnormalities among which obesity, hyperglycemia, dyslipidemia, and high blood pressure (HBP); once combined, they increase the cardiovascular risk significantly. APOE gene is considered as a genetic risk factor for cardiovascular diseases, and it has been linked to MetS or related disorders in several populations. Our study aimed to analyze, for the first time, the association of three APOE gene polymorphisms with MetS risk and its components in a general Algerian population sample, and to highlight the potential influence of these polymorphisms on individual susceptibility to MetS, diabetes, high blood pressure, and obesity, which has never been studied before in the Algerian population. Results: The rs439401 showed a significant association with hypertension. The T allele confers a high risk of hypertension with an odds ratio (OR) of 1.46 (95% CI [1.12-1.9], p = 0.006). The rs4420638 polymorphism was significantly associated with obesity in the general population. The G allele provides protection against obesity; the resulting OR is 0.48 (95% CI [0.29-0.81], p = 0.004). Conclusions: Although APOE variants were not associated with the risk of MetS, the APOE polymorphism alleles were associated with some of the metabolic parameters in Algerian subjects. The relation of APOE rs439401 alleles with high blood pressure seems indicative of a state of stress of the population.

Purpose: The aim of this case–control study was to determine the impact of environmental factors on the predisposition to develop keratoconus in a sample of Western Algerian population. Subsequently, we were interested in the implication of two single nucleotide polymorphisms (SNPs) IL4 rs2070874 and FOXP3 rs3761548, previously described as contributing to the occurrence of allergy, in the development of keratoconus. Methods: The study included 70 unrelated KC cases and 70 controls originating from Western Algeria. DNA genotyping was done using predesigned probe-based allelic discrimination TaqMan® assays. Allele and genotype frequencies were compared between the cases and controls by Chi-square test and odds ratios with 95% confidence intervals. Results: A significant association between risk factors such as family history, atopy, eye rubbing, and the development of keratoconus was found in our sample. Smoking would provide a protective effect against the pathology. No statistically significant differences were found in the allele and genotype frequencies between cases and controls neither for IL4 rs2070874 nor for FOXP3 rs3761548. Conclusion: Our study provides, for the first time, a clear demonstration of the absence of association of the allergy-associated IL4 and FOXP3 polymorphisms with KC in a sample from Western Algerian population.

La Dystrophie Musculaire de Duchenne (DMD) est la plus sévère et la plus fréquente des dystrophies musculaires, atteignant une naissance mâle sur 5000 dans la popu-lation mondiale. Elle se caractérise par une dégénérescence musculaire progressive dès le jeune âge et conduit à des défaillances graves de l’organisme qui aboutissent au décès du patient.Le gène responsable de la DMD est localisé sur le chromosome X. Il code pour une protéine du cytosquelette membranaire « la dystrophine ». Les altérations touchant ce gène sont essentiellement des délétions avec une proportion de 65%. C’est la rai-son pour laquelle nous nous sommes intéressés à la mise au point au niveau de notre laboratoire d’une technique qui nous permettra de mettre en évidence ce type de mutation chez 5 cas sporadiques atteints de myopathie de Duchenne et originaires de l’Ouest Algérien. L’étude a consisté à amplifier par PCR multiplex les 19 exons du gène DMD les plus fréquemment altérés. Cette étude nous a permis de mettre en évidence deux délétions différentes, la première touchant le promoteur du gène et la seconde l’exon 43. Ces premiers résultats confirment les données rapportées dans la littérature qui classent ces deux régions comme étant les régions les plus disposées aux délétions.Les résultats obtenus représentent une première au niveau de l’ouest algérien et pourraient aboutir à la généralisation du diagnostic génotypique et du conseil géné-tique en vue d’une amélioration de la prise en charge des malades en Algérie.