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Myelin basic protein (MBP) is thought to be one of the key autoantigens in multiple sclerosis (MS) development. A recent study described the association of the single nucleotide polymorphism (SNP) rs12959006, within the MBP gene, with a higher risk of relapse and worse prognosis. We aim at studying potential associations of this SNP to MS in an independent population. Clinical data of the first 5 years of the disease were collected retrospectively from 291 MS confirmed patients. MBP polymorphism rs12959006 was genotyped in all patients. Associations with EDSS, number of relapses and serology for Herpesvirus 6 (HHV-6) and Epstein Barr (EBV) viruses were studied. Lymphocyte activation measured by CD69 expression was also analyzed according to sex and rs12959006 genotype. The rs12959006 polymorphism contributed significantly to a higher number of relapses at 5 years after onset only in male patients (rs12959006∗TT β = 0.74 [0.36-1.09]; p = 7 × 10-5). Titers of anti-HHV6 IgG antibodies showed also a mild association with relapses, both in male and female patients (β = 0.01 [0.01-0.02]; p = 3.7 × 10-8). Both the genetic variation in MBP and HHV-6 infection aid in predicting a higher number of relapses during the first years of MS. The association described in MBP rs12959006∗T is exclusive to male patients. Copyright © 2020 Espino-Paisán, Agudo-Jiménez, Rosales-Martínez, López-Cotarelo, García-Martínez, Domínguez-Mozo, Pérez-Pérez, Dieli-Crimi, Comabella, Urcelay and Álvarez-Lafuente.

Citation

Laura Espino-Paisán, Teresa Agudo-Jiménez, Isabel Rosales-Martínez, Pilar López-Cotarelo, María Ángel García-Martínez, María Inmaculada Domínguez-Mozo, Silvia Pérez-Pérez, Romina Dieli-Crimi, Manuel Comabella, Elena Urcelay, Roberto Álvarez-Lafuente. A Polymorphism Within the MBP Gene Is Associated With a Higher Relapse Number in Male Patients of Multiple Sclerosis. Frontiers in immunology. 2020;11:771

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PMID: 32431704

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