Web of Science: 7 cites, Scopus: 8 cites, Google Scholar: cites,
A Polymorphism Within the MBP Gene Is Associated With a Higher Relapse Number in Male Patients of Multiple Sclerosis
Espino-Paisan, Laura (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Agudo-Jiménez, Teresa (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Rosales-Martínez, Isabel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
López-Cotarelo, Pilar (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
García-Martínez, María Ángel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Domínguez-Mozo, María Inmaculada (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Pérez-Pérez, Silvia (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Dieli-Crimi, Romina (Vall d'Hebron Institut de Recerca (VHIR))
Comabella López, Manuel (Hospital Universitari Vall d'Hebron)
Urcelay, Elena (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Alvarez-Lafuente, Roberto (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Universitat Autònoma de Barcelona

Data: 2020
Resum: 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.
Ajuts: Ministerio de Economía y Competitividad PI15/00821
Ministerio de Economía y Competitividad PI16/01259
Ministerio de Economía y Competitividad RD16/0015/0013
Ministerio de Educación, Cultura y Deporte FPU16/00969
Drets: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Llengua: Anglès
Document: Article ; recerca ; Versió publicada
Matèria: Multiple sclerosis ; SNP ; HHV-6 ; Myelin basic protein ; Relapse ; Sex differences ; Genetic marker
Publicat a: Frontiers in immunology, Vol. 11 (may 2020) , ISSN 1664-3224

DOI: 10.3389/fimmu.2020.00771
PMID: 32431704


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