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dc.contributor.authorMatesanz, Fuencisla
dc.contributor.authorRueda, Blanca
dc.contributor.authorOrozco, Gisela
dc.contributor.authorFernández-Fernández, Óscar
dc.contributor.authorLeyva-Fernández, Laura 
dc.contributor.authorAlcina, Antonio
dc.contributor.authorMartín-Ibáñez, Javier
dc.date.accessioned2024-09-17T11:24:08Z
dc.date.available2024-09-17T11:24:08Z
dc.date.issued2005-03-17
dc.identifier.citationMatesanz F, Rueda B, Orozco G, Fernandez O, Leyva L, Alcina A, Martín J. Protein tyrosine phosphatase gene (PTPN22) polymorphism in multiple sclerosis. J Neurol. 2005 Aug;252(8):994-5es_ES
dc.identifier.urihttps://hdl.handle.net/10630/32583
dc.descriptionPolítica de acceso abierto tomada de: https://www.sherpa.ac.uk/id/publication/8072es_ES
dc.description.abstractAlterations in the signalling pathway that regulate T-cell tyrosine phosphorylation play an important role in MS. Tyrosine phosphorylation is regulated by the equal and balanced action of protein tyrosine kinases and protein tyrosine phosphatases. The lymphoid-specific phosphatase (LYP), encoded by the PTPN22 gene, is important in negative control of T-cell activation and in T-cell development. A functional polymorphism at nucleotide 1858 in codon 620 (Arg620Trp) in the PTPN22 gene has been associated with type 1 diabetes mellitus (T1D), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE) in humans. In the present study, we tested the possible role of the 1858C→T variant of the PTPN22 gene in MS predisposition. We examined the distribution frequency of the PTPN22 1858C→T polymorphism of 120 patients with clinically defined MS and 200 healthy controls by a TaqMan 5’ allelic discrimination. The frequencies of 1858C/C, 1858C/T and 1858T/T genotypes were 87.5%%, 12% and 0.5% respectively in controls, and 83.3%, 15.8 % and 0.9 % in the patient group. The allele and genotype distribution frequencies were similar in MS patients and controls and were in Hardy-Weinberg equilibrium. This lack of association of the PTPN22 1858C→T polymorphism with MS should be interpreted cautiously. Because of the relatively small sample size, slight effects may be not uncovered and therefore these results do not completely rule out the possibility of an association with MS. The association of RA, T1D and SLE susceptibility with the PTPN22 1858C→T polymorphism suggests that the PTPN22 1858T allele predisposes individuals to developing autoimmune diseases. However, the PTPN22 1858C→T polymorphism seems not to be a critical point in the susceptibility to MS. Given the expression of this molecule in many immunological relevant cell types, our data support the hypothesis that PTPN22 may act in different ways in different autoimmune diseases.es_ES
dc.language.isoenges_ES
dc.publisherSpringeres_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.subjectEsclerosis múltiplees_ES
dc.subjectMielina - Enfermedades - Aspectos genéticoses_ES
dc.subject.otherPTPN22es_ES
dc.subject.otherMultiple sclerosises_ES
dc.subject.otherPolymorphismses_ES
dc.titleProtein tyrosine phosphatase gene (PTPN22) polymorphism in multiple sclerosis.es_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.centroFacultad de Medicinaes_ES
dc.identifier.doi10.1007/s00415-005-0795-y
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersiones_ES


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