title: Role of endothelial nitric oxide synthase and endothelin-1 polymorphism genes with the pathogenesis of intraventricular hemorrhage in preterm infants.
abstract: In the pathogenesis of neonatal intraventricular hemorrhage (IVH) in preterm infants, an important role is played by changes in venous and arterial cerebral flows. It has been shown that the ability of autoregulation of cerebral flows in response to variations in arterial blood pressure in preterm infants is impaired. This impaired autoregulation causes an increased risk of germinal matrix rupture and IVH occurrence. We examined three polymorphisms of genes, related to regulation of blood flow, for an association with IVH in 100 preterm infants born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroids therapy, and without congenital abnormalities. These polymorphisms include: eNOS (894G > T and -786T > C) and EDN1 (5665G > T ) gene. We found that infants with genotype GT eNOS 894G > T have 3.4-fold higher risk developing of IVH born before 28 + 6 weeks of gestation. Our investigation did not confirm any significant prevalence for IVH development according to eNOS -786T > C genes polymorphism. Our novel investigations in EDN1 5665G > T polymorphism did not show any link between alleles or genotypes and IVH. Future investigations of polymorphisms in blood-flow associated genes may provide valuable insight into the pathogenetic mechanisms underlying the development of IVH.
authors.affiliation: Chair and Department of Neonatology, Poznan University of Medical Sciences, Poland.
authors.forename: Dawid
authors.initials: D
authors.lastname: Szpecht
authors.affiliation: Chair and Department of Neonatology, Poznan University of Medical Sciences, Poland.
authors.forename: Janusz
authors.initials: J
authors.lastname: Gadzinowski
authors.affiliation: Department of Perinatology and Women's Diseases, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Seremak-Mrozikiewicz
authors.affiliation: Department of Perinatology and Women's Diseases, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Grażyna
authors.initials: G
authors.lastname: Kurzawińska
authors.affiliation: Chair and Department of Neonatology, Poznan University of Medical Sciences, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Szymankiewicz
mesh_terms: D000483:Alleles; D001034:Apgar Score; D001724:Birth Weight; D001794:Blood Pressure; D000074042:Cerebral Intraventricular Hemorrhage / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D019332:Endothelin-1 / Q000235:genetics* / Q000378:metabolism; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D052250:Nitric Oxide Synthase Type III / Q000235:genetics* / Q000378:metabolism; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index
chemical_list: D019332:Endothelin-1; D052250:Nitric Oxide Synthase Type III