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Polymorphism of the apolipoprotein E gene and risk of multiple sclerosis in ethnic Russians
Authors:O E Mustafina  A M Mikhailova  K Z Bakhtiyarova  T R Nasibulin  I A Tuktarova  O Yu Makarycheva  M A Sudomoina  A N Boiko  S A Voronchikhina  L I Volkova  R V Magzhanov  O O Favorova
Institution:(1) Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, 450054, Russia;(2) Bashkir State Medical University, Ufa, 450000, Russia;(3) Regional Clinical Hospital № 1, Yekaterinburg, 620102, Russia;(4) Russian State Medical University, Moscow, 117997, Russia
Abstract:Multiple sclerosis (MS) is a multifactorial disease of the central nervous system with pronounced hereditary predisposition. The purpose of the study was to test the assumption on the involvement of the apolipoprotein E gene (APOE) polymorphism in exon 4 in the development of MS in ethnic Russians. Samples independently collected in Moscow (106 MS cases and 189 control healthy volunteers), Sverdlovsk oblast (54 and 109, respectively), and the Republic of Bashkortostan (119 and 285, respectively) were examined. Genotypes for 2059C/T and 2197C/T polymorphisms of the APOE gene, which determine the amino acid substitutions C112R and R158C in apolipoprotein E, were analyzed by polymerase chain reaction followed by restriction analysis of amplificates. No statistically significant differences in genotype or allele frequencies were found between the control group and the group of MS cases. The APOE*4 allele is not associated with the risk of MS in ethnic Russians.
Keywords:human genomics  apolipoprotein E            APOE gene  allele  polymorphism  multiple sclerosis  Russian ethnic group
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