Tags

Type your tag names separated by a space and hit enter

Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis.
Clin Exp Immunol 2011; 166(3):338-45CE

Abstract

It has long been known that tumour necrosis factor (TNF)/TNFRSF1A signalling is involved in the pathophysiology of multiple sclerosis (MS). Different genetic and clinical findings over the last few years have generated renewed interest in this relationship. This paper provides an update on these recent findings. Genome-wide association studies have identified the R92Q mutation in the TNFRSF1A gene as a genetic risk factor for MS (odds ratio 1·6). This allele, which is also common in the general population and in other inflammatory conditions, therefore only implies a modest risk for MS and provides yet another piece of the puzzle that defines the multiple genetic risk factors for this disease. TNFRSF1A mutations have been associated with an autoinflammatory disease known as TNF receptor-associated periodic syndrome (TRAPS). Clinical observations have identified a group of MS patients carrying the R92Q mutation who have additional TRAPS symptoms. Hypothetically, the co-existence of MS and TRAPS or a co-morbidity relationship between the two could be mediated by this mutation. The TNFRSF1A R92Q mutation behaves as a genetic risk factor for MS and other inflammatory diseases, including TRAPS. Nevertheless, this mutation does not appear to be a severity marker of the disease, neither modifying the clinical progression of MS nor its therapeutic response. An alteration in TNF/TNFRS1A signalling may increase proinflammatory signals; the final clinical phenotype may possibly be determined by other genetic or environmental modifying factors that have not yet been identified.

Authors+Show Affiliations

Centre d'Esclerosi Múltiple de Catalunya, CEM-Cat, Unitat de Neuroimmunologia Clínica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. caminero.nrl@gmail.comNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22059991

Citation

Caminero, A, et al. "Role of Tumour Necrosis Factor (TNF)-α and TNFRSF1A R92Q Mutation in the Pathogenesis of TNF Receptor-associated Periodic Syndrome and Multiple Sclerosis." Clinical and Experimental Immunology, vol. 166, no. 3, 2011, pp. 338-45.
Caminero A, Comabella M, Montalban X. Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis. Clin Exp Immunol. 2011;166(3):338-45.
Caminero, A., Comabella, M., & Montalban, X. (2011). Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis. Clinical and Experimental Immunology, 166(3), pp. 338-45. doi:10.1111/j.1365-2249.2011.04484.x.
Caminero A, Comabella M, Montalban X. Role of Tumour Necrosis Factor (TNF)-α and TNFRSF1A R92Q Mutation in the Pathogenesis of TNF Receptor-associated Periodic Syndrome and Multiple Sclerosis. Clin Exp Immunol. 2011;166(3):338-45. PubMed PMID: 22059991.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis. AU - Caminero,A, AU - Comabella,M, AU - Montalban,X, PY - 2011/11/9/entrez PY - 2011/11/9/pubmed PY - 2012/1/10/medline SP - 338 EP - 45 JF - Clinical and experimental immunology JO - Clin. Exp. Immunol. VL - 166 IS - 3 N2 - It has long been known that tumour necrosis factor (TNF)/TNFRSF1A signalling is involved in the pathophysiology of multiple sclerosis (MS). Different genetic and clinical findings over the last few years have generated renewed interest in this relationship. This paper provides an update on these recent findings. Genome-wide association studies have identified the R92Q mutation in the TNFRSF1A gene as a genetic risk factor for MS (odds ratio 1·6). This allele, which is also common in the general population and in other inflammatory conditions, therefore only implies a modest risk for MS and provides yet another piece of the puzzle that defines the multiple genetic risk factors for this disease. TNFRSF1A mutations have been associated with an autoinflammatory disease known as TNF receptor-associated periodic syndrome (TRAPS). Clinical observations have identified a group of MS patients carrying the R92Q mutation who have additional TRAPS symptoms. Hypothetically, the co-existence of MS and TRAPS or a co-morbidity relationship between the two could be mediated by this mutation. The TNFRSF1A R92Q mutation behaves as a genetic risk factor for MS and other inflammatory diseases, including TRAPS. Nevertheless, this mutation does not appear to be a severity marker of the disease, neither modifying the clinical progression of MS nor its therapeutic response. An alteration in TNF/TNFRS1A signalling may increase proinflammatory signals; the final clinical phenotype may possibly be determined by other genetic or environmental modifying factors that have not yet been identified. SN - 1365-2249 UR - https://www.unboundmedicine.com/medline/citation/22059991/Role_of_tumour_necrosis_factor__TNF__α_and_TNFRSF1A_R92Q_mutation_in_the_pathogenesis_of_TNF_receptor_associated_periodic_syndrome_and_multiple_sclerosis_ L2 - https://doi.org/10.1111/j.1365-2249.2011.04484.x DB - PRIME DP - Unbound Medicine ER -