例如:"lncRNA", "apoptosis", "WRKY"

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

Front Immunol. 2020 May 05;11:771. doi:10.3389/fimmu.2020.00771. eCollection 2020
Laura Espino-Paisán 1 , Teresa Agudo-Jiménez 1 , Isabel Rosales-Martínez 1 , Pilar López-Cotarelo 1 , María Ángel García-Martínez 2 , María Inmaculada Domínguez-Mozo 2 , Silvia Pérez-Pérez 2 , Romina Dieli-Crimi 3 , Manuel Comabella 4 , Elena Urcelay 1 , Roberto Álvarez-Lafuente 2
Laura Espino-Paisán 1 , Teresa Agudo-Jiménez 1 , Isabel Rosales-Martínez 1 , Pilar López-Cotarelo 1 , María Ángel García-Martínez 2 , María Inmaculada Domínguez-Mozo 2 , Silvia Pérez-Pérez 2 , Romina Dieli-Crimi 3 , Manuel Comabella 4 , Elena Urcelay 1 , Roberto Álvarez-Lafuente 2
+ et al

[No authors listed]

Author information
  • 1 Laboratorio 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.
  • 2 Grupo de Investigación de Factores Ambientales en Enfermedades Degenerativas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Red Española de Esclerosis Múltiple (REEM), Madrid, Spain.
  • 3 Servicio de Inmunología, Hospital Universitari Vall d'Hebron (HUVH), Diagnostic Immunology, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • 4 Servei de Neurologia-Neuroimmunologia, Centre d'Esclerosi Múltiple de Catalunya (Cemcat), Institut de Recerca Vall d'Hebron (VHIR), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Red Española de Esclerosis Múltiple (REEM), Barcelona, Spain.

摘要


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.

KEYWORDS: HHV-6, SNP, genetic marker, multiple sclerosis, myelin basic protein, relapse, sex differences