RESUMO
Multiple sclerosis (MS) is a multifactorial disease of the central nervous system. The apolipoprotein E (APOE) and interleukin 1 beta (IL1B) genes are considered to be candidate genes of MS. The aim of the study was to examine the hypothesis of the importance of APOE and IL1B gene polymorphisms in MS development in ethnic Tatars. DNA samples isolated by phenol-chloroform extraction from peripheral blood of 383 ethnic Tatars (120 MS patients and 263 healthy donors) were studied. 112C/R and 158R/C APOE gene polymorphisms as well as -511T/C IL1B gene polymorphism were analyzed by polymerase chain reaction (PCR) followed by PCR product digestion by endonuclease. Odds ratio (OR) values were used for evaluation of the relative risk of alleles and(or) genotype combinations. It has been shown that APOE*2/*3 genotype is associated with low risk of the disease development (OR = 0.20) in women. A combined effect of APOE and IL1B allelic variants has been discovered indicating the increased risk of the disease development in the carriers of APOE*4 and IL1B*T/*T alleles (OR = 4.76).
Assuntos
Apolipoproteínas E/genética , Povo Asiático , Predisposição Genética para Doença , Interleucina-1beta/genética , Esclerose Múltipla/genética , Polimorfismo Genético , Adolescente , Adulto , Idoso , Alelos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/etnologiaRESUMO
The multiple sclerosis is a complex disease of the central nervous system with the pronounced hereditary predisposition. The purpose of our research consisted in acknowledgement of the assumption on importance of apolipoprotein E gene (APOE) polymorphism in exon 4 in development of the multiple sclerosis in ethnic Russians. Research was lead on the samples independently collected in Moscow (106 patients and 189 persons of control group), Sverdlovsk area (54 and 109, accordingly) and republic Bashkortostan (119 and 285, accordingly). 2059C/T and 2197C/T polymorphisms of APOE gene, which determine aminoacid substitutions C112R and R158C in apolipoprotein E, were determined by polymerase chain reaction with the following restriction analysis of amplicons. There was not detected statistically significant distinctions on genotypes frequencies and alleles frequencies between control group and group of patients with multiple sclerosis. APOE*4 allele is not assosiated with risk of development of the multiple sclerosis at ethnic Russians.