title: No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Jc
authors.initials: J
authors.lastname: Pronk
authors.forename: Gc
authors.initials: G
authors.lastname: Scheper
authors.forename: Rj
authors.initials: R
authors.lastname: van Andel
authors.forename: Cgm
authors.initials: C
authors.lastname: van Berkel
authors.forename: Ch
authors.initials: Ch
authors.lastname: Polman
authors.forename: Bmj
authors.initials: B
authors.lastname: Uitdehaag
authors.forename: Ms
authors.initials: M
authors.lastname: van der Knaap
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D001927:Brain Diseases / Q000150:complications / Q000235:genetics*; D005091:Exons; D006801:Humans; D007438:Introns; D009103:Multiple Sclerosis / Q000453:epidemiology* / Q000235:genetics; D009426:Netherlands; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D044465:White People / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions