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Article type: Research Article
Authors: Fishchuk, L.a; * | Rossokha, Z.a | Pokhylko, V.b | Cherniavska, Yu.b | Popova, O.a | Tsvirenko, S.b | Gorovenko, N.c
Affiliations: [a] State Institution “Reference-centre for Molecular Diagnostic of Public Health Ministry of Ukraine”, Kyiv, Ukraine | [b] Department of Pediatrics No. 1 with Propaedeutics and Neonatology, Poltava State Medical University, Poltava, Ukraine | [c] Department of Medical and Laboratory Genetics, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine
Correspondence: [*] Address for correspondence: Liliya Fishchuk, PhD, SI “Reference Centre for Molecular Diagnostic of Health Ministry of Ukraine”, 9 Dorohozhytska Street, 04112, Kyiv, Ukraine. Tel.: +380504407230; E-mail: medgen@ukr.net.
Abstract: BACKGROUND:Summary data indicate that it has increased attention to the study of the role of the folate cycle and the genes encoding its key components in the complicated course of the neonatal period in premature infants. Therefore, the aim of our study was to investigate the relationship of folate cycle gene variants with the features of the neonatal course in premature infants with severe intraventricular hemorrhages (IVH). METHODS:The study included 24 preterm infants with with IVHs of 3d and 4th degree that received standard clinical, laboratory and instrumental examination. RESULTS:Apgar scores at 1 and 5 minutes were significantly lower in patients with AA genotype according to variant A1298C of the MTHFR gene. The concentration of total protein on 6th day after birth was negatively correlated with the A66G variant of the MTRR gene. The mean concentration of ionized calcium in the first day after birth was higher in the subgroup of patients with the AA genotype (according to variant A1298C of the MTHFR gene). In the subgroup of patients requiring mechanical ventilation, the frequency of AA genotype according to variant A2756G of the MTR gene was significantly increased. The presence of respiratory disorders and oxygen dependence was negatively correlated with variant A1298C MTHFR. The day of surfactant administration was positively correlated with variant A1298C of the MTHFR gene. CONCLUSION:The results of this study indicate that gene variants MTHFR (C677T, A1298C), MTRR (A66G), MTR (A2756G), RFC1 (G80A) may affect the neonatal course in premature infants with severe IVH.
Keywords: Folate cycle, gene, intraventricular hemorrhage, preterm infants
DOI: 10.3233/NPM-210962
Journal: Journal of Neonatal-Perinatal Medicine, vol. 15, no. 3, pp. 545-551, 2022
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