Thèses doctorat

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    Impact of MTHFR rs1801133, MTHFR rs1801131 and ABCB1 rs1045642 polymorphisms with increased susceptibility of rheumatoid arthritis in the West Algerian population: a case-control study
    (University of sciences and technology in Oran, 2015-05-27) Boughrara W; Aberkane M; Fodil M; Benzaoui A; Dorgham S; Zemani F; Dahmani C; Petit Teixeira E; Boudjema A
    Rheumatoid arthritis (RA) is an autoimmune disease that results in a chronic systemic inflammation. A few genetic epidemiologic studies found a potential association between genetic polymorphisms C677T (rs1801133) and A1298C (rs1801131) of methylenetatrahydrofolate reductase (MTHFR) gene and C3435T (rs1045642) of ATP-Binding cassette (ABCB1) gene and the increased risk for RA. The aim of this case-control study was to determine the relationship between these polymorphisms and RA susceptibility in West Algerian population. The dataset of the current study is composed of 110 RA patients and 101 healthy controls. All samples were genotyped for theses polymorphisms by TaqMan® allelic discrimination assay.Data were compared between cases and controls by the calculation of the odds ratio (OR) with a confidence interval at 95%. After age and RA erosion-stratified analyzes, no differences in genotypes or alleles frequencies distribution were found for MTHFR C677T (rs1801133) and ABCB1 C3435T (rs1045642) polymorphisms between RA cases and controls. However, the MTHFR A1298C (rs1801131) polymorphism presented a significant distribution in RA with age≥40 (Genotypic data: p=0.007, OR=13.53[1.44-63.31], Allelic data: p=0.001, OR=2.39[1.39-4.1]), and in RA erosive form (Genotypic data: p=0.002, OR=6.92[1.68-30.23], Al-lelic data: p=0.0001, OR=2.43[1.54-3.85]).These results were confirmed after the Bonferroni correction. In this study we have showed, for the first time in the West Algerian population, that the MTHFR A1298C (rs1801131) polymorphism can be associated with rheumatoid arthritis.
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    Association des polymorphismes du gène méthylène-tétrahydrofolate réductase avec la leucémie myéloïde chronique
    (University of sciences and technology in Oran, 2015-04-28) Dorgham, Samia; Meriem Aberkane; Wefa Boughrara; Badra Antar Soltan; Nemra Mehalhal; Hadj Touhami
    Methylene-tetrahydrofolate reductase (MTHFR) is a key enzyme of folate metabolism. Few studies were reported about its relationship with chronic myeloid leukemia (CML). We conducted a case-control study analyzing the prevalence of the polymorphisms MTHFR C677T and MTHFR A1298C in Algerians CML patients. Using TaqMan® allelic discrimination assay,we investigate MTHFR C677T and A1298C polymorphism distribution in 90 cases of CML and 100 healthy subjects. The frequencies of 677T alleles and genotypes 677TT and 677CT were significantly higher in cases than in control (P = 1E-6; OR= 6.77 [4.22-10.86]) and (P = 1E-6; OR= 10.38 [4.56-23.6]) respectively. Also, the frequencies of 1298C alleles and genotypes 1298CC and 1298AC were higher in cases (P = 9 E-6; OR= 2.65 [1.71-4.10]) and (P = 0.008; OR= 2.22 [1.21-4.06]) respectively. We report also the higher significance of the haplotype 677T/1298A and 677T/1298C in cases (P = 0.007; OR= 2.57 [1.26-5.24]) and (P = 5 E-6, OR= 6.91 [2.7646-17.2899]) respectively. Our results demonstrate that 677T and 1298C alleles are both associated with an increased risk of CML in Algeria.