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A Polymorphism Within the MBP Gene Is Associated With a Higher Relapse Number in Male Patients of Multiple Sclerosis
Laura Espino-Paisán1, Teresa Agudo-Jiménez1, Isabel Rosales-Martínez1
1Laboratorio de Investigación en Genética de Enfermedades Complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Red Española de Esclerosis Múltiple (REEM), Madrid, Spain.
Abstract:
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.
Insights
The myelin basic protein (MBP) gene polymorphism rs12959006 is linked to increased multiple sclerosis (MS) relapses in males. Human herpesvirus 6 (HHV-6) infection also correlates with MS relapses.
Area of Science:
- Neuroimmunology
- Genetics
- Infectious Disease
Background:
- Myelin basic protein (MBP) is a key autoantigen in multiple sclerosis (MS).
- A prior study linked the MBP gene SNP rs12959006 to MS risk and prognosis.
- This study investigates the association of rs12959006 with MS in an independent cohort.
Purpose of the Study:
- To examine the association of the MBP rs12959006 polymorphism with MS clinical outcomes.
- To investigate potential links between rs12959006, viral infections (HHV-6, EBV), and MS relapse rates.
- To analyze the influence of sex on the rs12959006 association with MS.
Main Methods:
- Retrospective analysis of clinical data from 291 MS patients.
- Genotyping of the MBP rs12959006 polymorphism.
- Assessment of associations with Expanded Disability Status Scale (EDSS), relapse number, and viral serology (HHV-6, EBV).
- Analysis of lymphocyte activation marker CD69 expression.
Main Results:
- The rs12959006 polymorphism significantly increased MS relapses within 5 years post-onset, specifically in male patients (rs12959006*TT, β = 0.74, p = 7 × 10⁻⁵).
- Anti-HHV-6 IgG antibody titers showed a mild association with relapses in both sexes (β = 0.01, p = 3.7 × 10⁻⁸).
- The association of MBP rs12959006*T with relapses was exclusive to male patients.
Conclusions:
- Both genetic variation in MBP and HHV-6 infection can predict a higher relapse rate in early MS.
- The rs12959006 polymorphism's impact on MS relapses is sex-specific, primarily affecting males.
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