Frontiers in Immunology (May 2020)

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

  • 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

DOI
https://doi.org/10.3389/fimmu.2020.00771
Journal volume & issue
Vol. 11

Abstract

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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.

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