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MAPT gene rs1052553 variant is not associated with the risk for multiple sclerosis
Authors:José AG Agúndez  Elena García-Martín  Carmen Martínez  Julián Benito-León  Jorge Millán-Pascual  Patricia Calleja  María Díaz-Sánchez  Diana Pisa  Laura Turpín-Fenoll  Hortensia Alonso-Navarro  Lucía Ayuso-Peralta  Dolores Torrecillas  José Francisco Plaza-Nieto  Félix Javier Jiménez-Jiménez
Institution:1. Department of Pharmacology, University of Extremadura, Cáceres, Spain;2. Department of Biochemistry and Molecular Biology, University of Extremadura, Cáceres, Spain;3. CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Spain;4. Service of Neurology, Hospital Universitario Doce de Octubre, Madrid, Spain;5. Department of Medicine, University Complutense, Madrid, Spain;6. Section of Neurology, Hospital La Mancha-Centro, Alcázar de San Juan, Ciudad Real, Spain;g Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Facultad de Ciencias, Universidad Autónoma, Cantoblanco, 28049 Madrid, Spain;h Department of Medicine-Neurology, Hospital “Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares, Madrid, Spain;i Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey E-28500, Madrid, Spain
Abstract:

Background/Objectives

Some experimental data suggest a possible role of tau protein in the pathogenesis of multiple sclerosis (MS) and in experimental autoimmune encephalomyelitis. The aim of this study was to investigate a possible influence of the SNP rs1052553 in the MAPT gene in the risk for relapsing bout onset (relapsing–remitting and secondary progressive) MS.

Methods

We analyzed the allelic and genotype frequency of MAPT rs1052553, which has been associated with some neurodegenerative diseases, in 259 patients with relapsing bout onset MS and 291 healthy controls, using TaqMan Assays.

Results

MAPT rs1052553 allelic and genotype frequencies did not differ significantly between relapsing bout onset MS patients and controls, and were unrelated with the age of onset of MS or gender.

Conclusions

These results suggest that MAPT rs1052553 polymorphism is not related with the risk for relapsing bout onset MS.
Keywords:MS  multiple sclerosis  GWAS  genome-wide association studies  TNFRSF1A  tumor necrosis factor receptor superfamily member 1A  CSF  cerebrospinal fluid  TPPP/p25  tubulin polymerization promoting protein 25  MAPT  microtubule-associated protein tau  SNP  single nucleotide polymorphism
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