Response to interferon-beta treatment in multiple sclerosis patients: A genome-wide association study

S. Mahurkar; M. Moldovan; V. Suppiah; M. Sorosina; F. Clarelli; G. Liberatore; S. Malhotra; X. Montalban; A. Antigüedad; M. Krupa; V.G. Jokubaitis; F.C. McKay; P.N. Gatt; M.J. Fabis-Pedrini; V. Martinelli; G. Comi; J. Lechner-Scott; A.G. Kermode; M. Slee; B.V. Taylor; K. Vandenbroeck; M. Comabella; F.M. Boneschi; C. King

doi:10.1038/tpj.2016.20

Back

Response to interferon-beta treatment in multiple sclerosis patients: A genome-wide association study

Journal article

Peer reviewed

Response to interferon-beta treatment in multiple sclerosis patients: A genome-wide association study

S. Mahurkar, M. Moldovan, V. Suppiah, M. Sorosina, F. Clarelli, G. Liberatore, S. Malhotra, X. Montalban, A. Antigüedad, M. Krupa, …

The Pharmacogenomics Journal, Vol.17(4), pp.312-318

2017

DOI: https://doi.org/10.1038/tpj.2016.20

Files and links (1)

url

Link to Published Version *Subscription may be requiredView

Abstract

Up to 50% of multiple sclerosis (MS) patients do not respond to interferon-beta (IFN-β) 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-β 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-β-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).

Details

Title: Response to interferon-beta treatment in multiple sclerosis patients: A genome-wide association study
Authors/Creators: S. Mahurkar (Author/Creator)
M. Moldovan (Author/Creator)
V. Suppiah (Author/Creator)
M. Sorosina (Author/Creator)
F. Clarelli (Author/Creator)
G. Liberatore (Author/Creator)
S. Malhotra (Author/Creator)
X. Montalban (Author/Creator)
A. Antigüedad (Author/Creator)
M. Krupa (Author/Creator)
V.G. Jokubaitis (Author/Creator)
F.C. McKay (Author/Creator)
P.N. Gatt (Author/Creator)
M.J. Fabis-Pedrini (Author/Creator)
V. Martinelli (Author/Creator)
G. Comi (Author/Creator)
J. Lechner-Scott (Author/Creator)
A.G. Kermode (Author/Creator)
M. Slee (Author/Creator)
B.V. Taylor (Author/Creator)
K. Vandenbroeck (Author/Creator)
M. Comabella (Author/Creator)
F.M. Boneschi (Author/Creator)
C. King (Author/Creator)
Publication Details: The Pharmacogenomics Journal, Vol.17(4), pp.312-318
Publisher: Nature Publishing Group
Identifiers: 991005542638207891
Murdoch Affiliation: Institute for Immunology and Infectious Diseases
Language: English
Resource Type: Journal article

UN Sustainable Development Goals (SDGs)

This output has contributed to the advancement of the following goals:

Source: InCites

Metrics

40 Record Views

24 Times Cited - Web of Science

See more details

InCites Highlights

These are selected metrics from InCites Benchmarking & Analytics tool, related to this output

Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.203 Neuromuscular Disorders; 1.203.147 Multiple Sclerosis
Web Of Science research areas: Genetics & Heredity; Pharmacology & Pharmacy
ESI research areas: Pharmacology & Toxicology