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Vol 42(2008) N 6 p. 852-858; O.E. Mustafina1, A.M. Mikhailova1, K.Z. Bakhtiyarova2, T.R. Nasibulin1, I.A. Tuktarova1, O.Yu. Makarycheva4, M.A. Sudomoina4, A.N. Boiko4, S.A. Voronchikhina3, L.I. Volkova3, R.V. Magzhanov2, O.O. Favorova4 Polymorphism of the apolipoprotein E gene and risk of multiple sclerosis in ethnic Russians 1Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, 450054, Russia2Bashkir State Medical University, Ufa, 450000, Russia 3Regional Clinical Hospital № 1, Yekaterinburg, 620102, Russia 4Russian State Medical University, Moscow, 117997, Russia Received - 2008-03-05; Accepted - 2008-05-06 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. human genomics, apolipoprotein E, APOE gene, allele, polymorphism, multiple sclerosis, Russian ethnic group |
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