Hypoxia-Inducible Pathway Polymorphisms and Their Role in the Complications of Prematurity

Author:

Strauss Ewa1ORCID,Gotz-Więckowska Anna2,Sobaniec Alicja3,Chmielarz-Czarnocińska Anna2,Szpecht Dawid3,Januszkiewicz-Lewandowska Danuta45ORCID

Affiliation:

1. Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

2. Department of Ophthalmology, Poznan University of Medical Sciences, Szamarzewskiego 84, 60-569 Poznan, Poland

3. Department of Neonatology, Poznan University of Medical Sciences, Polna 33, 60-535 Poznan, Poland

4. Department of Medical Diagnostics, Poznan University of Medical Sciences, Dobra Street 38a, 60-595 Poznan, Poland

5. Department of Pediatric Oncology, Hematology and Transplantology, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572 Poznan, Poland

Abstract

Excessive oxidative stress resulting from hyperoxia or hypoxia is a recognized risk factor for diseases of prematurity. However, the role of the hypoxia-related pathway in the development of these diseases has not been well studied. Therefore, this study aimed to investigate the association between four functional single nucleotide polymorphisms (SNPs) in the hypoxia-related pathway, and the development of complications of prematurity in relation to perinatal hypoxia. A total of 334 newborns born before or on the 32nd week of gestation were included in the study. The SNPs studied were HIF1A rs11549465 and rs11549467, VEGFA rs2010963, and rs833061. The findings suggest that the HIF1A rs11549465T allele is an independent protective factor against necrotizing enterocolitis (NEC), but may increase the risk of diffuse white matter injury (DWMI) in newborns exposed to hypoxia at birth and long-term oxygen supplementation. In addition, the rs11549467A allele was found to be an independent protective factor against respiratory distress syndrome (RDS). No significant associations with VEGFA SNPs were observed. These findings indicate the potential involvement of the hypoxia-inducible pathway in the pathogenesis of complications of prematurity. Studies with larger sample sizes are needed to confirm these results and explore their clinical implications.

Funder

Scientific Research Committee in Poland

Poznan University of Medical Sciences

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Reference52 articles.

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2. Global burden of preterm birth;Walani;Int. J. Gynaecol. Obstet.,2020

3. WHO (2022). Recommendations for Care of the Preterm or Low-Birth-Weight Infant.

4. Incidence and evolution of subependymal and intraventricular hemorrhage: A study of infants with birth weights less than 1500 gm;Papile;J. Pediatr.,1978

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