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Multiple Sclerosis
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research-article

No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis

JC Pronk

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

GC Scheper

Department of Paediatrics/Child Neurology, VU University Medical Center, Amsterdam, The Netherlands

RJ van Andel

Department of Paediatrics/Child Neurology, VU University Medical Center, Amsterdam, The Netherlands

CGM van Berkel

Department of Paediatrics/Child Neurology, VU University Medical Center, Amsterdam, The Netherlands

CH Polman

Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands

BMJ Uitdehaag

Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands; Department of Clinical Epidemiology and Biostatistics, VU University Medical Center, Amsterdam, The Netherlands

MS van der Knaap

Department of Paediatrics/Child Neurology, VU University Medical Center, Amsterdam, The Netherlands ms.vanderknaap{at}vumc.nl

Febrile infections are known to cause exacerbations in the white matter disorders ‘vanishing white matter' (VWM) and multiple sclerosis (MS). We hypothesized that polymorphisms in EIF2B1-5, the genes involved in VWM, might be risk factors for the development of MS or temperature sensitivity in patients with MS. We found no difference in the frequencies of 15 EIF2B1-5 variants between patients with MS and healthy controls, and none of the variants showed significant deviation of the Hardy-Weinberg equilibrium. Furthermore, sequencing data of EIF2B1-5 in 20 patients with MS and measurement of the activity of eIF2B complex in patient-derived lymphoblasts did not support our hypothesis.

Key Words: eIF2B • multiple sclerosis • polymorphisms • temperature sensitivity • vanishing white matter

This version was published on September 1, 2008

Multiple Sclerosis, Vol. 14, No. 8, 1123-1126 (2008)
DOI: 10.1177/1352458508093618
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