No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis.
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.
Pronk
Jc
J
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Scheper
Gc
G
van Andel
Rj
R
van Berkel
Cgm
C
Polman
Ch
Ch
Uitdehaag
Bmj
B
van der Knaap
Ms
M
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
D020413:3' Untranslated Regions