The genetic factors associated with multiple sclerosis in Kazakhstan are not well understood. The aim of the study was to determine a major histocompatibility complex (MHC) genotype pattern and its clinical correlations in pediatric demyelinating diseases of multiple sclerosis (MS) spectrum in Kazakh population. For that a complex clinical, neuroimaging and immunogenetic examination was performed in 19 children (11 girls, 8 boys) with central nervous system (CNS) demyelination aged from 4 to 18 years. Clinically, 4 out of 19 children had leukoencephalitis (21%), and in 15 of 19 patients had MS (79%) including 6 presented with a clinically isolated syndrome. We found that presence of gene allele DRB1*15(02) and the associated alleles, combined in the haplotype DRB1*15(02)∼DQA1*01:02∼DQB1*06:02 point out a significantly higher risk of MS development, i.e. 7.7 fold in children and adolescents of the Kazakh ethnicity and a 3.12 fold risk for children of Russian ethnicity. We observed that presence of both DRB1*15 alleles (homozygotes) and of one DRB1*15 allele in combination with DRB1*03 in female teenagers presented with more aggressive “classical” MS; this aspect requires more profound clinical observations in a bigger cohort.

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