- Title
- Response to interferon-beta treatment in multiple sclerosis patients: a genome-wide association study
- Creator
- Mahurkar, S.; Moldovan, M.; Jokubaitis, V. G.; McKay, F. C.; Gatt, P. N.; Fabis-Pedrini, M. J.; Martinelli, V.; Comi, G.; Lechner-Scott, J.; Kermode, A. G.; Slee, M.; Taylor, B. V.; Suppiah, V.; Sorosina, M.; Clarelli, F.; Liberatore, G.; Malhotra, S.; Montalban, X.; Antigüedad, A.; Krupa, M.
- Relation
- Pharmacogenomics Journal Vol. 17, Issue 4, p. 312-318
- Publisher Link
- http://dx.doi.org/10.1038/tpj.2016.20
- Publisher
- Nature Publishing Group
- Resource Type
- journal article
- Date
- 2017
- Description
- Up to 50% of multiple sclerosis (MS) patients do not respond to interferon-beta (IFN-ß) treatment and determination of response requires lengthy clinical follow-up of up to 2 years. Response predictive genetic markers would significantly improve disease management. We aimed to identify IFN-ß treatment response genetic marker(s) by performing a two-stage genome-wide association study (GWAS). The GWAS was carried out using data from 151 Australian MS patients from the ANZgene/WTCCC2 MS susceptibility GWAS (responder (R)=51, intermediate responders=24 and non-responders (NR)=76). Of the single-nucleotide polymorphisms (SNP) that were validated in an independent group of 479 IFN-ß-treated MS patients from Australia, Spain and Italy (R=273 and NR=206), eight showed evidence of association with treatment response. Among the replicated associations, the strongest was observed for FHIT (Fragile Histidine Triad; combined P-value 6.74 × 10-6) and followed by variants in GAPVD1 (GTPase activating protein and VPS9 domains 1; combined P-value 5.83 × 10-5) and near ZNF697 (combined P-value 8.15 × 10-5).
- Subject
- multiple sclerosis; genome-wide association study; interferon-beta treatment; genetic markers; disease management
- Identifier
- http://hdl.handle.net/1959.13/1387527
- Identifier
- uon:32621
- Identifier
- ISSN:1470-269X
- Language
- eng
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