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Early B-cell Factor gene association with multiple sclerosis in the Spanish population

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Abstract ral ss BioMed CentBMC Neurology Open AcceResearch article Early B-cell Factor gene association with multiple sclerosis in the Spanish population Alfonso Martínez1, Ana Mas1, Virginia de las Heras2, Rafael Arroyo2, Miguel Fernández-Arquero1, Emilio G de la Concha* and Elena Urcelay1 Address: 1Department of Clinical Immunology, Hospital Clinico San Carlos, Madrid, Spain and 2Department of Neurology, Hospital Clinico San Carlos, Madrid, Spain Email: Alfonso Martínez - [email protected]; Ana Mas - [email protected]; Virginia de las Heras - [email protected]; Rafael Arroyo - [email protected]; Miguel Fernández-Arquero - [email protected]; Emilio G de la Concha* - [email protected]; Elena Urcelay - [email protected] * Corresponding author Abstract Background: The etiology of multiple sclerosis (MS) is at present not fully elucidated, although it is considered to result from the interaction of environmental and genetic susceptibility factors. In this work we aimed at testing the Early B-cell Factor (EBF1) gene as a functional and positional candidate risk factor for this neurological disease. Axonal damage is a hallmark for multiple sclerosis clinical disability and EBF plays an evolutionarily conserved role in the expression of proteins essential for axonal pathfinding. Failure of B-cell differentiation was found in EBF-deficient mice and involvement of B-lymphocytes in MS has been suggested from their presence in cerebrospinal fluid and lesions of patients. Methods: The role of the EBF1 gene in multiple sclerosis susceptibility was analyzed by performing a case-control study with 356 multiple sclerosis patients and 540 ethnically matched controls comparing the EBF1 polymorphism rs1368297 and the microsatellite D5S2038. Results: Significant association of an EBF1-intronic polymorphism (rs1368297, A vs. T: p = 0.02; OR = 1.26 and AA vs. [TA+TT]: p = 0.02; OR = 1.39) was discovered. This association was even stron

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