A Polymorphism Within the MBP Gene Is Associated With a Higher Relapse Number in Male Patients of Multiple Sclerosis

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...

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Detalhes bibliográficos
Autores: Espino-Paisan, Laura, Agudo-Jiménez, Teresa, Rosales-Martínez, Isabel, López-Cotarelo, Pilar, García-Martínez, María Ángel, Domínguez-Mozo, María Inmaculada, Pérez-Pérez, Silvia, Dieli-Crimi, Romina|||0000-0003-3413-5133, Comabella López, Manuel|||0000-0002-2373-6657, Urcelay, Elena|||0000-0001-8470-8396, Alvarez-Lafuente, Roberto|||0000-0002-3132-1486
Formato: artículo
Fecha de publicación:2020
País:España
Recursos:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:252617
Acesso em linha:https://ddd.uab.cat/record/252617
https://dx.doi.org/urn:doi:10.3389/fimmu.2020.00771
Access Level:acceso abierto
Palavra-chave:Multiple sclerosis
SNP
HHV-6
Myelin basic protein
Relapse
Sex differences
Genetic marker
Descrição
Resumo: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.