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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.


1. Biziukevich SV, Karpiuk VA. Genetic aspects of the etiopathogenesis of autism spectrum disorders. Literature review. Psikhiatriia Psikhoterapiia Klin Psikhologiia. 2019;10(1):148-56. (In Russ.)
2. Haghiri R, Mashayekhi F, Bidabadi E, Salehi Z. Analysis of methionine synthase (rs1805087) gene polymorphism in autism patients in Northern Iran. Acta Neurobiol Exp (Wars). 2016;76(4):318-323. doi:
3. El-Baz F, El-Aal MA, Kamal TM, Sadek AA, Othman AA4. Study of the C677T and 1298AC polymorphic genotypes of MTHFR Gene in autism spectrum disorder. Electron Physician. 2017 Sep;9(9):5287-5293. doi:
4. Grechanina EYa. Autizm. Genetic and epigenetic problems. Nauk Zhurn MOZ Ukraїni. 2013;(2):29-48. (In Russ.)
5. Mal'tsev DV. An expanded clinical and laboratory phenotype in genetically determined folate cycle disorders in children with autism spectrum disorders. Mezhdunar Nevrol Zhurn. 2018;5(99):5-19. (In Russ.)
6. Мальцев ДВ. Дефіцит природних кілерних Т-клітин. Украин Мед Журн Mal'tsev DV. Deficiency of natural killer T cells. Ukrain Med Zhurn. 2015;(1):65-70. (In Ukr.)
7. Yatskiv AA, Ermak OA, Ruzhilo OS, Lebed' T. C677T Polymorphism of the MTHFR Gene in the Belarusian Population. V: Shebeko KK i dr, redkol. Nauchnyi potentsial molodezhi – budushchemu Belarusi: materialy VII Mezhdunar molodezh nauch-prakt konf, Pinsk, Resp Belarus', 10 apr 2013 g. Ch 2. Pinsk, RB: PolesGU; 2013. Р. 232-4. (In Russ.)
8. Radzinskiy VE, red. Folates in the 21st century outside pregnancy.  Only proven facts. Moscow, RF: Red zhurn Status Praesens; 2014. 16 р. (In Russ.)
9. Zhilyaeva TV, Al'bitskaya ZhV, Kasimova LN. Taking folates during pregnancy and the risk of autism in offspring. V: Neznanov NG, red. Psikhiatriia na etapakh reform: problemy i perspektivy [Elektronnyi resurs]: XVI s"ezd psikhiatrov Rossii, Vseros nauch-prakt konf s mezhdunar uchastiem, Kazan', 23–26 sent 2015 g: tezisy. Saint Petersburg, RF: Al'ta Astra; 2015. R. 194-5. 1 elektron opt disk (CD-ROM). (In Russ.)
10. Sener EF, Oztop DB, Ozkul Y. MTHFR Gene C677T polymorphism in autism spectrum disorders. Genet Res Int. 2014;2014:698574. doi:
11. Park J, Ro M, Pyun JA, Nam M, Bang HJ, Yang JW, et al. MTHFR 1298A>C is a risk factor for autism spectrum disorder in the Korean population. Psychiatry Res. 2014 Jan;215(1):258-9. doi:
12. Pu D, Shen Y, Wu J. Association between gene MTHFR polymorphisms and the risk of autism spectrum disorders: a meta-analysis. Autism Res. 2013 Oct;6(5):384-92. doi:
13. Zhang Z, Yu L, Li S, Liu J. Association study of polymorphisms in genes relevant to vitamin B12 and folate metabolism with childhood autism spectrum disorder in a Нan chinese population. Med Sci Monit. 2018 Jan;24:370-376. doi:

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.

Correspondence address: Republic of Belarus, 230009, Grodno, 15/1 Obukhov str., Grodno State Medical University, Chair of Psychiatry and Narcology. E-mail: Этот адрес электронной почты защищён от спам-ботов. У вас должен быть включен JavaScript для просмотра. – Svetlana V. Biziukevich.

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