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

• Published in: Multiple sclerosis 2008-09, Vol.14 (8), p.1123-1126
• Main Authors: Pronk, JC, Scheper, GC, van Andel, RJ, van Berkel, CGM, Polman, CH, Uitdehaag, BMJ, van der Knaap, MS
• Format: Article
• Language: English
• Subjects: 3' Untranslated Regions - genetics; Biological and medical sciences; Brain Diseases - complications; Brain Diseases - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; European Continental Ancestry Group - genetics; Exons; Humans; Introns; Medical sciences; Multiple Sclerosis - epidemiology; Multiple Sclerosis - genetics; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; Netherlands; Neurology; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Risk Factors
• ISSN: 1352-4585; 1477-0970
• DOI: 10.1177/1352458508093618

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.