Analysis of relationship between rs4102217-MALAT1 gene polymorphism with ischemic atherothrobotic stroke in persons with normal and high blood pressure

Background. Ischemic atherothrombotic stroke (IATS) – multifactorial disease caused by a combination of genetic and environmental factors. Despite numerous studies of the pathogenetic component of ischemic stroke, there are no preclinical biomarkers that could support the study of molecular and physiological processes that lead to stroke. That's why a strategy for studying the pathogenesis of stroke is to start by identifying the genes associated with stroke. In particular, with ischemic stroke, an abnormal expression of MALAT1 plays an important role in such processes as angiogenesis, apoptosis, and inflammation. However, the study of the connection of the SNP variant of the MALAT1 with an IATS is few and not carried out in the Ukrainian population.The aim of this study was to investigate the possible association of rs4102217-polymorphism of the MALAT1 gene with ischemic stroke in individuals with normal and high blood pressure. Materials and methods. Venous blood of 200 patients with IATS was used for the study; the control group consisted of 234 practically healthy donors. To determine the SNP of rs4102217 MALAT1 was used polymerase chain reaction (Real-Time PCR). SPSS program (version 17.0, IBM, USA) was used for most statistical analyses. Results. It was found that the ratio of GG, GC and CC genotypes among the persons of the control group that had an increased AP - 84.9%, 13.7% and 1.4% respectively, and in the subgroup of persons from the main group with high blood pressure - 62,7%, 30.0%, 7.3% respectively. By applying χ2 – Pearson criterion was established a statistically significant difference in the distribution of genotypes between the comparative groups (χ2 - 12,015; P - 0,002). The results of logistic regression analysis showed statistically significant associations of IATS polymorphism in three models. So, the risk of development of IATS increases 2,97 times for patients with arterial hypertension, who are carriers of the C-allele (ORadj = 2,97; 95% CI = 1,286-6,785; Padj = 0,011 - for a dominant model). Conclusions. There is a link between the rs4102217-polymorphism of the MALAT1 gene and the development of IATI in people with normal and high blood pressure.