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Genetic and Molecular Basis of Diseases in Preterm Infants

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 31 March 2026 | Viewed by 607

Special Issue Editor


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Guest Editor
Department of Neonatology, Poznan University of Medical Sciences, Poznań, Poland
Interests: neonatology; pediatrics; prematurity; genetic factors in neonatal diseases; intraventricular hemorrhage; brain injury in preterm infants; neurodevelopmental outcomes; neonatal hematology and oncology; translational neonatal research

Special Issue Information

Dear Colleagues,

This Special Issue aims to elucidate the role of genetic factors in the pathogenesis of prematurity complications such as intraventricular hemorrhage, necrotizing enterocolitis, bronchopulmonary dysplasia, and retinopathy of prematurity, among others. 

Current scientific reports suggest that an explanation for individual differences in susceptibility to prematurity complications could be sought in research on genetic backgrounds. Thus, many genetic studies on diseases in preterm infants focus on key gene variants that enhance the inflammatory response and may contribute to an increased risk of preterm birth and complications of prematurity. A better understanding of these mechanisms may allow for the earlier identification of neonates at increased risk and implementation of targeted surveillance or preventive strategies in this vulnerable population. 

Dr. Dawid Szpecht
Guest Editor

Manuscript Submission Information

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Keywords

  • genetic factors
  • prematurity complications
  • gene variants
  • inflammatory response
  • preterm infants

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Published Papers (1 paper)

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Research

21 pages, 627 KB  
Article
Association of Gene Variants in Matrix Metalloproteinases and Their Tissue Inhibitors with Intraventricular Haemorrhage in Preterm Infants
by Dawid Szpecht, Karolina Żyto, Gabriela Ciszek, Karolina Duczmal, Zofia Kowal, Kornelia Kręciszewska, Zuzanna Słowińska, Grażyna Kurzawińska, Anna Sowińska and Agnieszka Seremak-Mrozikiewicz
Int. J. Mol. Sci. 2026, 27(6), 2596; https://doi.org/10.3390/ijms27062596 - 12 Mar 2026
Viewed by 373
Abstract
The objective of the present study is to examine the association between the presence of various forms of matrix metalloproteinase genes (MMP-1, MMP-9, TIMP-1 and TIMP-2) and their tissue inhibitors, and the incidence of intraventricular haemorrhage (IVH) in premature [...] Read more.
The objective of the present study is to examine the association between the presence of various forms of matrix metalloproteinase genes (MMP-1, MMP-9, TIMP-1 and TIMP-2) and their tissue inhibitors, and the incidence of intraventricular haemorrhage (IVH) in premature neonates. The data for this study were obtained from samples of peripheral venous blood, which were collected and stored post-delivery. The techniques employed for the purpose of genotyping were polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). The population that was examined comprised 100 patients with a gestational age (GA) ranging from 22 to 33 weeks and birth weight (BW) ranging from 432 to 2100 g. In the cohort of enrolled patients, 48 cases of IVH were observed. As indicated by the findings of this study, the majority of observed correlations between MMP-1, MMP-9, TIMP-1, and TIMP-2 variants and IVH did not demonstrate statistical significance, with the exception of the T allele of TIMP1 rs4898. Nevertheless, the findings of this study indicated a potential impact of these variants on the incidence of IVH. The present study suggests that further research is required to elucidate the role of MMP/TIMP polymorphisms in the aforementioned disease. Full article
(This article belongs to the Special Issue Genetic and Molecular Basis of Diseases in Preterm Infants)
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