A genome-wide association study has identified the R92Q variant of the TNFRSF1A gene as a new susceptibility locus for multiple sclerosis. This locus is of special interest because the R92Q substitution was previously detected in a group of multiple sclerosis patients who had additional symptoms compatible with the autoinflammatory syndrome TRAPS.
This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
Clinical and psychological phenomenology of pain in autoinflammatory diseases
BMC Rheumatology Open Access 18 December 2020
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Oksenberg, J. R., Baranzini, S. E., Sawcer, S. & Hauser, S. L. The genetics of multiple sclerosis: SNPs to pathways to pathogenesis. Nat. Rev. Genet. 7, 516–526 (2008).
De Jager, P. L. et al. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat. Genet. 41, 776–782 (2009).
Baranzini, S. E. et al. Pathway and network-based analysis of genome-wide association studies in multiple sclerosis. Hum. Mol. Genet. 18, 2078–2090 (2009).
Gold, R., Linington, C. & Lassmann, H. Understanding pathogenesis and therapy of multiple sclerosis via animal models: 70 years of merits and culprits in experimental autoimmune encephalomyelitis research. Brain 129, 1953–1971 (2006).
Spuler, S. et al. Multiple sclerosis: prospective analysis of TNF-α and 55 kDa TNF receptor in CSF and serum in correlation with clinical and MRI activity. J. Neuroimmunol. 66, 57–64 (1996).
[No authors listed] TNF neutralization in MS: results of a randomized, placebo-controlled multicenter study. Neurology 53, 444–445 (1999).
Masters, S. L., Simon, A., Aksentijevich, I. & Kastner, D. L. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu. Rev. Immunol. 27, 621–668 (2009).
Kümpfel, T. et al. Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation. Arthritis Rheum. 56, 2774–2783 (2007).
Kümpfel, T. et al. Multiple sclerosis and the TNFRSF1A R92Q-mutation: clinical characteristics of 21 cases. Neurology 71, 1812–1820 (2008).
Acknowledgements
R. Hohlfeld is supported by the German Research Foundation (grant number SFB 571, A1).
Author information
Authors and Affiliations
Ethics declarations
Competing interests
T. Kümpfel has acted as a consultant for and received grants from Bayer Schering Pharma, Biogen-Idec, Merck-Serono and Teva. R. Hohlfeld has acted as a consultant for and received grants from Bayer Schering Pharma, Biogen-Idec Merck-Serono, Novartis and Teva.
Rights and permissions
About this article
Cite this article
Kümpfel, T., Hohlfeld, R. TNFRSF1A, TRAPS and multiple sclerosis. Nat Rev Neurol 5, 528–529 (2009). https://doi.org/10.1038/nrneurol.2009.154
Issue Date:
DOI: https://doi.org/10.1038/nrneurol.2009.154
This article is cited by
-
Clinical and psychological phenomenology of pain in autoinflammatory diseases
BMC Rheumatology (2020)
-
Multiple Sklerose: Updates zu Pathogenese und Therapie
Der Nervenarzt (2011)