Вестник Витебского государственного медицинского университета (Feb 2023)
Association of A1298C and C677T polymorphisms of MTHFR gene and homocysteine level in children with arterial hypertension
Abstract
Objectives. To determine the distribution of genotypes and alleles frequency of polymorphic variants A1298C and C677T of the methylenetetrahydrofolate reductase (MTHFR) gene and the level of homocysteine in children with arterial hypertension (AH). Material and methods. The polymorphism of the above genes was studied using a real-time polymerase chain reaction (n=90). Blood plasma homocysteine was determined by high-pressure liquid chromatography. Results. Significant differences in the frequency of occurrence of the AA and AC genotypes of the A1298C polymorphic variant of the MTHFR gene, CC and CT genotypes of the C677T of the MTHFR gene have been revealed. It has been established that in children with high normal blood pressure (HNBP) and AH, the level of homocysteine is statistically significantly higher compared to healthy children. The highest level of Hcy was observed in children with AH with the presence of the genotype 1298AC, in children with HNBP – with the pathological genotype 1298CC. When comparing the level of Hcy within each of the groups of children with the C677T mutation in the MTHFR gene, no significant differences have been observed. The presence of the TT genotype of the polymorphic locus C677T of the MTHFR gene in children with AH is associated with the increased concentration of homocysteine compared with the control group. It has been established that the risk of developing AH is 2.45 times increased in the presence of the pathological genotype 1298CC and increases 1.9 times in the presence of the dominant CC vs. CT/TT polymorphic variant C677T among patients with HNBP. Conclusions. Identification of genotypes, risk alleles of the MTHFR gene and the presence of hyperhomocysteinemia are associated with an increased risk of arterial hypertension development in children.
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