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SAGE Publications, Multiple Sclerosis Journal, 9(19), p. 1132-1136, 2013

DOI: 10.1177/1352458512472749

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Rare MEFV variants are not associated with risk to develop multiple sclerosis and severity of disease

Journal article published in 2013 by Ine Pauwels, Leentje Cosemans, Steven Boonen, Bénédicte Dubois, An Goris ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Background: Recent studies suggest an association between rare variants in Mediterranean fever (MEFV), the gene underlying the auto-inflammatory disorder Familial Mediterranean Fever (FMF), the risk to develop multiple sclerosis (MS) and severity of MS. Objective: The objective of this study is to investigate these findings in a Belgian MS population and to test for association with additional clinical parameters such as treatment response. Methods: MEFV was sequenced in a cohort of MS patients ( N=94) suffering from auto-inflammatory symptoms, systemic side-effects upon interferon-beta (IFN-β) treatment, or patients in whom glatiramer acetate was started as first choice due to severe fatigue. Five rare non-synonymous variants were detected in this cohort and subsequently genotyped in 915 MS patients and 763 healthy controls. Results: We observed no association between these alleles and susceptibility to MS ( p-value=0.99) or disease severity ( p-value=0.78). However, we did observe a correlation between carrying an MEFV variant and the development of systemic side-effects upon IFN-β treatment ( p-value=0.022). Conclusion: In contrast to recent smaller studies, we did not find an association between carrying a rare variant in the MEFV gene and the risk to develop MS or disease severity. However, carrying rare variants in MEFV was associated with the development of severe systemic side-effects upon IFN-β treatment.