Related Experiment Video

Updated: Dec 11, 2025

High-throughput Quantitative Real-time RT-PCR Assay for Determining Expression Profiles of Types I and III Interferon Subtypes
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Published on: March 24, 2015

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Effect of genetic polymorphisms on therapeutic response in multiple sclerosis relapsing-remitting patients treated

Laura Martínez-Aguilar1, Cristina Pérez-Ramírez2, María Del Mar Maldonado-Montoro3

  • 1Department of Pharmacy and Pharmaceutical Technology. Social and Legal Assistance Pharmacy Section, Faculty of Pharmacy, University of Granada, Campus Universitario de Cartuja, s/n, 18071 Granada, Spain.

Mutation Research. Reviews in Mutation Research
|August 18, 2020
PubMed

Treatment with interferon beta (IFNβ) is one of the first-line treatments for multiple sclerosis. In clinical practice, however, many patients present suboptimal response to IFNβ, with the proportion of non-responders ranging from 20 to 50%. This variable response can be affected by genetic factors, such as polymorphisms in the genes involved in the disease state, pharmacodynamics, metabolism or in the action mechanism of IFNβ, which can affect the efficacy of this drug. This review assesses the impact of pharmacogenetics studies on response to IFNβ treatment among patients diagnosed with relapsing-remitting multiple sclerosis (RRMS). The results suggest that the detection of polymorphisms in several genes (CD46, CD58, FHIT, IRF5, GAPVD1, GPC5, GRBRB3, MxA, PELI3 and ZNF697) could be used in the future as predictive markers of response to IFNβ treatment in patients diagnosed with RRMS. However, few studies have been carried out and they have been performed on small sample sizes, which makes it difficult to generalize the role of these genes in IFNβ treatment. Studies on large sample sizes with longer term follow-up are therefore required to confirm these results.

Keywords:
Interferon-betaMultiple sclerosisPolymorphismsResponse

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