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

doi:10.1186/1471-2377-5-19

BMC Neurology

Volume 5

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Martínez A
Mas A
de las Heras V
Arroyo R
Fernández-Arquero M
de la Concha EG
Urcelay E

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Martínez A
Mas A
de las Heras V
Arroyo R
Fernández-Arquero M
de la Concha EG
Urcelay E
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Research 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 Concha¹ and Elena Urcelay¹

¹Department of Clinical Immunology, Hospital Clinico San Carlos, Madrid, Spain

²Department of Neurology, Hospital Clinico San Carlos, Madrid, Spain

author email corresponding author email

BMC Neurology 2005, 5:19doi:10.1186/1471-2377-5-19


Published:	28 October 2005

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 stronger after stratification for the well-established risk factor of multiple sclerosis in the Major Histocompatibility Complex, DRB1*1501 (AA vs. [TA+TT]: p = 0.005; OR = 1.78). A trend for association in the case-control study of another EBF1 marker, the allele 5 of the very informative microsatellite D5S2038, was corroborated by Transmission Disequilibrium Test of 53 trios (p = 0.03).

Conclusion

Our data support EBF1 gene association with MS pathogenesis in the Spanish white population. Two genetic markers within the EBF1 gene have been found associated with this neurological disease, indicative either of their causative role or that of some other polymorphism in linkage disequilibrium with them.