Effect of genetic polymorphisms on therapeutic response in multiple sclerosis relapsing-remitting patients treated with interferon-beta.

Mutation research. Reviews in mutation research 2020 Jul - Sep

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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. Copyright © 2020 Elsevier B.V. All rights reserved.

Citation

Laura Martínez-Aguilar, Cristina Pérez-Ramírez, María Del Mar Maldonado-Montoro, María Isabel Carrasco-Campos, Cristina Membrive-Jiménez, Fernando Martínez-Martínez, Carlos García-Collado, Miguel Ángel Calleja-Hernández, María Carmen Ramírez-Tortosa, Alberto Jiménez-Morales. Effect of genetic polymorphisms on therapeutic response in multiple sclerosis relapsing-remitting patients treated with interferon-beta. Mutation research. Reviews in mutation research. 2020 Jul - Sep;785:108322