Open AccessAssociation of Gene Variants of Plasmic (FGB -455 G>A (rs1800790), F2 20210 G>A (rs1799963), F5 1691 G>A (rs6025), F7 10976 G>A (rs6046), F13 G>T (rs5985)), Thrombocytic (ITGA2 807 C>T (rs1126643), ITGB3 1565 T>C (rs5918)), Fibrinolytic (PAI-1 -675 5G>4G (rs1799889)) Hemostasis Components with Arterial or Venous Thrombosis in Newborns: Case-Controlled Study
Author(s) -
О. А. Филиппова,
И. В. Вахлова,
Н. Н. Кузнецов,
Т. Б. Аболина,
Grigory Tsaur
Publication year - 2020
Publication title -
pediatričeskaâ farmakologiâ
Language(s) - English
Resource type - Journals
eISSN - 2500-3089
pISSN - 1727-5776
DOI - 10.15690/pf.v17i5.2163
Subject(s) - medicine , thrombosis , hemostasis , genotype , thrombophilia , gastroenterology , pediatrics , cardiology , bioinformatics , gene , genetics , biology
Background . The severity of thrombosis clinical course, poor prognosis, upcoming disability and permanent organ failure in newborns necessitate further search and study of thrombotic conditions predictors in order to prevent them. Aim of the study is to analyze the frequency of gene variants of plasmic, thrombocytic and fibrinolytic hemostasis components and determine their role in the thrombosis development in newborn children. Methods . The study included 46 full-term newborns with thromboses of different localization – cases group. Inclusion criteria were: child age 28 days or less, gestational period >37 weeks, informed consent on participation in the study. The control group included children of I and II health groups. Vascular thrombosis was diagnosed via instrumental imaging methods: vascular ultrasound, computer tomography, magnetic resonance imaging. Thrombophilic anamnesis and pregnant woman’s health condition was analyzed according to pregnancy medical records. The molecular genetic testing included 8 single nucleotide polymorphisms definition of the following genes: FGB -455 G>A (rs1800790), F2 20210 G>A (rs1799963), F5 1691 G>A (rs6025), F7 10976 G>A (rs6046), F13 G>T (rs5985), ITGA2 807 C>T (rs1126643), ITGB3 1565 T>C (rs5918), PAI-1 -675 5G>4G (rs1799889). Results . Molecular genetic predictors of thrombosis in newborns have been revealed: variants of fibrinogen gene FGB -455 G>А (AP, %=66), plasminogen activator inhibitor gene PAI-1 -675 4G > 4G (AP, % = 89), genotype associations PAI-1 -675 4G/>4G /F7 10976 G>G (AP, % = 82), PAI-1 -675 4G>4G / F13 34 G>G (AP, % = 63)PAI-1 -675 4G>4G / F7 10976 G>G / F13 34 G>G(AP, % = 61), and integrin alpha 2 gene ITGA2 807 T/T (AP, % = 93). Maternal factor of thrombosis development in children is impaired uteroplacental circulation in pregnant woman (AP, % = 66). Conclusion . The role of gene variants of plasmic, thrombocytic and fibrinolytic hemostasis components in development of thrombosis in newborns was determined, as well as quantitative estimation of their contribution was presented.