RELATIONSHIP BETWEEN RFC GENE VARIANTS (RS1051266) AND CLINICAL FEATURES OF SEVERE INTRAVENTRICULAR HEMORRHAGE IN PRETERM INFANTS

The physiological function of the RFC gene is to ensure the processes of intracellular folic acid transport that are extremely important not only for the processes of reproduction, but also for the embryonic develop-ment of a growing foetus. The aim of this study is to investigate the association between the RFC (G80A, rs1051266) gene variants and the features of the neonatal course in premature infants with severe intraven-tricular haemorrhage. Materials and methods. The study included 24 preterm infants with severe intraven-tricular haemorrhages that received standard clinical, laboratory and instrumental examination. Determina-tion of RFC gene variants was performed using the polymerase chain reaction- restriction fragment length polymorphism method. Results. The following frequencies of genotypes were determined according to the G80A variant of the RFC gene: GG – 8 (33.3%), GA – 9 (37.5%) and AA – 7 (29.2%) in the study group. Children with the A allele of the RFC gene had an increased risk of developing hypertension and a higher mean concentration of ionized calcium. Preterm infants with the A allele were more likely to require oxygen therapy with maximum oxygen concentration and in the presence of this allele in a homozygous state (AA genotype) required nCPAP and non-invasive mechanical ventilation. Conclusion. The obtained results sup-port a hypothesis about the influence on variants of RFC genes on severe neonatal period in preterm infants with intraventricular haemorrhages. However, further multifaceted research in this area is required to give more ground in supporting hypothesis.