Biziukevich S.V., Karpiuk V.A.
Comparative characteristics of the distribution of alleles and polymorphisms of the folate cycle genes in children with autism spectrum disorders and healthy children of Grodno and Grodno region
Grodno State Medical University, Grodno, Republic of Belarus
Vestnik VGMU. 2020;19(3):106-111.
The purpose of this article is a comparative characteristic of the distribution of alleles and polymorphisms of the folate cycle genes in children with autism spectrum disorders and healthy children residing in Grodno and Grodno Region.
Material and methods. The study included 187 children aged 2-10 years. The first group (n = 102) consisted of children with autism spectrum disorders, the second group (n = 85) was composed of healthy children. The detection of mutations of the MTHFR C677T, MTHFR A1298C, MTRR A66G, MTR A2756G folate cycle genes in healthy children and children with autism spectrum disorders was performed using molecular genetic analysis, including DNA extraction from 5 ml of peripheral blood samples using the diagnostic kits «SNP-Screen» and «DNA-Extran».
Results. Comparative analysis of the frequency distribution of alleles of the MTRR A66G (χ2=12.63; p=0.001) and MTHFR C677T (χ2=9.36; p=0.0092) genes in the group of children with autism spectrum disorders revealed significant differences with regard to the distribution of their frequencies in the group of healthy children. There is a tendency towards the increase in the occurrence frequencies of mutant alleles G (53.9%) and T (44.6%) of the genes MTRR A66G, MTHFR C677T in the group of children with autism spectrum disorders compared to the group of healthy children – 35.29% and 28.8%.
Conclusions. The results obtained demonstrate that the presence of homozygous polymorphisms of the MTHFR C677T and MTRR A66G genes and their associations may testify to the risk of the development of autism spectrum disorders in children.
Key words: autism spectrum disorders, polymorphism, folate cycle genes, homozygotes, gene alleles, immunity, children.
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Information about authors:
Biziukevich S.V – senior lecturer of the Chair of Psychiatry and Narcology, Grodno State Medical University;
Karpiuk V.A. – Candidate of Medical Sciences, associate professor, head of the Chair of Psychiatry and Narcology, Grodno State Medical University.