Polymorphisms variants of the MTHFR C677T and PAI-1 5G/4G genes and their combinations in the group of children with arterial ischemic stroke

Abstract

Introduction. Arterial ischemic stroke (AIS) in childhood is a disorder associated with different predisposing factors, thrombophilia is one of them. We present the study of the MTHFR C677T and PAI-1 5G/4G gene polymorphisms as a possible risk factor for the development of AIS in the group of Ukrainian children. Materials and methods. 77 children from 29 days to 15 years of age were involved in this study: study group - 44 children with AIS, and 33 in a control group. Children enrolled to both groups were at similar age. Results. In the study group there was an increase in the frequency of genotypes 677CT (OR = 2.69) and 677TT, CT + TT genotypes (OR = 3.67) of the MTHFR gene, increased frequency of the 677T allele (OR = 2.57). In the study group detection of 5G/5G + 5G/4G genotypes was higher (OR = 2.82) with statistically predominance of the 5G allele (OR = 2.26) of the gene PAI -1. Higher frequency of the combination of genotypes genes 677CT + 5G/5G was found in the main group. The model of interpreting interactions was built, it allows to predict indirectly the potential intergenic interactions. Conclusions. We conclude that risk of AIS is higher in children with polymorphic variants 677CT and 677TT for the MTHFR gene; the association of polymorphic variants 5G/4G and 5G/5G for the PAI-1 gene with a decrease in the risk of developing AIS; direct interaction with the MTHFR was found for PAI-1, but of weak strength.