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BackgroundBronchopulmonary dysplasia (BPD) is a chronic lung disease that mainly affects premature newborns. Many different factors, increasingly genetic, are involved in the pathogenesis of BPD. Fibronectin is a multi-domain glycoprotein present in nearly all vertebrate tissues and organs. Material and methodsThe study included 108 infants born between 24 and 32 weeks of gestation. BPD was diagnosed based on the National Institutes of Health Consensus definition. The 5 FN1 gene polymorphisms assessed in the study were the following: rs3796123; rs1968510; rs10202709; rs6725958; and rs35343655. ResultsBPD developed in 30 (38.5%) out of the 108 preterm infants. Incidence of BPD was higher in infants with lower APGAR scores, low gestational age, and low birthweight. Investigation did not confirm any significant prevelance for BPD development in any genotypes and alleles of FN1. Conclusion Further studies should be performed to confirm the role of genetic factors in etiology and pathogenesis of BPD.

The aim of this study was to investigate the association between selected polymorphisms of nitric oxide synthetase (eNOS) and endothelin-1 (EDN-1) with the occurrence and progression of retinopathy of prematurity (ROP). A prospective study was conducted on 90 preterm infants (44 female), comparing 39 cases with ROP and 51 controls without ROP. Patients who developed ROP were further divided into two subgroups—those with spontaneous regression of the disease and those with ROP requiring treatment. We found that preterm infants with TT genotype eNOS 894G > T had a 12.8-fold higher risk of developing ROP requiring treatment (p = 0.02). Our results showed that allele T of eNOS894G > T polymorphism was significantly more prevalent in ROP patients requiring treatment (p = 0.029). We also investigated preterm infants with TC genotype eNOS − 786 T > C and found an 8.8-fold higher risk developing of ROP requiring treatment (p = 0.021). Our results didn’t show any association between EDN-1 5665G > T polymorphism and ROP development. The eNOS polymorphisms appears to influence incidence of ROP requiring treatment in preterm infants. Future research on single nucleotide polymorphisms may provide important information about the pathogenetic mechanisms underlying the development of ROP.

Background/introduction Intraventricular hemorrhage (IVH) is a dangerous complication facing a significant proportion of preterm infants. It is multifactorial in nature, and an observed fibronectin deficiency in the germinal matrix basal lamina is among the most prominent factors that influence such rupture. Better understanding of the FN1 gene polymorphisms and their role in IVH may further clarify the presence of a genetic susceptibility of certain babies to this complication. The aim of this study was to assess if 5 single nucleotide polymorphisms of the fibronectin gene may be linked to an increased incidence of IVH. Material and methods The study included 108 infants born between 24 and 32 weeks of gestation. IVH was diagnosed using cranial ultrasound performed on the 1st,3rd, and 7th day after birth and classified according to Papile et al. IVH classification. The 5 FN1 gene polymorphisms assessed in the study were the following: rs3796123; rs1968510; rs10202709; rs6725958; and rs35343655. Results IVH developed in 51 (47.2%) out of the 108 preterm infants. This includes, 18 (35.3%) with stage I IVH, 19 (37.3%) with stage II, 11 (21.6%) with stage III, and 3 (5.9%) with stage IV IVH. Incidence of IVH was higher in infants with lower APGAR scores, low gestational age, and low birthweight. Analysis showed that IVH stage II to IV was approximately seven times more likely to occur in infants with the genotype TT FN1 rs10202709 (OR 7237 (1046–79.59; p = 0,044)). No other significant association was found with the rest of the polymorphisms. Conclusion The results of our study indicate a sevenfold increased genetic susceptibility to IVH in preterm infants with the TT FN1 rs10202709 gene polymorphism. The fibronectin gene polymorphism may therefore be of crucial importance as a genetic risk factor for IVH in preterm infants. Further studies are warranted.

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.

Many studies established that gestational hypertension (GH) and preeclampsia (PE) are multifactorial diseases and disturbances in coagulation cascade have etiological significance. Inherited thrombophilias, like polymorphism of factor V (FV) Leiden and prothrombin (PTM) are considered to be involved in the PE development. The aim of this study was to determine the association between FV Leiden and G20210A of PTM gene polymorphism and GH/PE appearance. The study comprised 235 women: GH (n = 126, mean age 27.5 +/- 6.0 years), mild PE (n = 41, mean age 28.3 +/- 5.7 years), and severe PE (n = 68, mean age 28.5 +/- 5.7 years). The control group consisted of 400 healthy pregnant women (mean age 27.5 +/- 4.7 years). All women included in the study were white Caucasian of Polish origin, and were singleton pregnancies. The G1691A polymorphism of FV and G20210A polymorphism of PTM were detected using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) assays. For PTM G20210A polymorphism overrepresentation of heterozygous GA genotype (7.4 vs. 1.2%, P = 0.02) and of A allele (3.7 vs. 0.6%, P = 0.02) in the group of severe PE have been found. For FV G1691A polymorphism the overrepresentation of genotypes containing at least one mutated allele A (GA and AA) in the group of women with mild (9.7 vs. 3.5%, ns) and severe PE (8.8 vs. 3.5%, ns) was observed. Our results suggest the significant influence of G20210A prothrombin polymorphism and possible influence of G1691A factor V polymorphism in the development of severe preeclampsia.