HLA class II alleles and multiple sclerosis in Tunisian patients

International audienceObjective The aim of our study was to investigate the association of HLA-DRB1 and -DQB1 alleles with multiple sclerosis (MS) in a Tunisian population and their effect on age at onset and disease severity Methods 58 MS patients and 105 healthy controls were genotyped for HLA class II alleles by PCR-SSP technique Results An association of MS with HLA-DRB1*15 was found (147% vs 3 8%, OR (95% CI) = 4 34 (1 69-11 39) P(c) = 2 5 x 10(-3)) after Bonferroni's correction Moreover the DRB1*15-DQB1*06 (138% vs 28%, OR (95% CI) = 5 44 (1 92-17 41) p(c) = 1 1 x 10(-3)) and DRB1*04-DQB1*04 (86% vs 19% OR (95% CI)- 4 86 (1 36-21 62) p(c) = 0 028) haplotypes were found to confer a susceptibility to multiple sclerosis Conclusion To our knowledge this is the first study performed to analyze the association of HLA-DRB1/DQB1 alleles on MS susceptibility in Tunisia The modern Tunisian gene pool shows some degree of heterogeneity and reflects a significant gene flow from Mediterranean regions (C) 2010 Elsevier B V All rights reserve

Cerebral venous thrombosis associated with homozygous factor V Leiden mutation in a 15-year-old girl of Tunisian origin

Cerebral venous thrombosis (CVT) is a rare disease. It has numerous and complex etiologies. Inherited or acquired prothrombotic states play a key role in the development of this disease, such as factor V G1691A mutation (FV Leiden). A 15-year-old girl presented to the Department of Neurology with a complaint of severe headache with visual blurring. The diagnosis of CVT was not initially suspected because of the patient's condition on presentation. An MRI showed thrombosis in the superior sagittal sinus, confirming venous stroke. Anticardiolipin and antiphospholipid antibodies were assessed. In addition, inherited prothrombotic defects, such as protein C, protein S, and antithrombin deficiencies, and genetic mutations for FV Leiden, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) were studied. All results were unremarkable except for the unique homozygous FV Leiden mutation, which likely contributed to this prothrombotic situation. This study highlights the fact that FV Leiden may play a significant role in the onset of CVT in young patients