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Published on: October 31, 2025
Genetic and epidemiological risk factors in the development of bronchopulmonary dysplasia
Beena Mailaparambil1, Marcus Krueger, Ulrike Heizmann
1Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, Freiburg, Germany.
Insights
Bronchopulmonary dysplasia (BPD) is a chronic lung disease in preterm infants. While clinical factors like birth weight are key, genetic links to BPD are complex and require further study.
Area of Science:
- Neonatology
- Genetics
- Pulmonology
Background:
- Bronchopulmonary dysplasia (BPD) is a significant complication of prematurity in infants.
- Known clinical risk factors for BPD exist, and recent research has identified candidate genes.
Purpose of the Study:
- To investigate clinical and genetic risk factors for BPD development in the German population.
- To analyze associations between specific gene polymorphisms and BPD incidence.
Main Methods:
- Recruitment of 155 preterm infants (gestational age ≤28 weeks) at a tertiary neonatal center.
- Collection of clinical data from hospital charts for 47 infants who developed moderate to severe BPD.
- Genotyping of 37 polymorphisms across 16 candidate genes in all infants.
Main Results:
- Birth weight and gestational age were the strongest epidemiological risk factors for BPD.
- Significant genetic associations were found with polymorphisms in Tumour necrosis factor alpha, Toll like receptor 10, and vascular endothelial growth factor.
- Haplotype analyses also indicated associations with Tumour necrosis factor alpha and Toll like receptor 10.
Conclusions:
- Clinical factors demonstrated a more convincing association with BPD than genetic polymorphisms.
- The genetic complexity of BPD is highlighted, suggesting intricate gene-environment interactions.
- Identifying predisposing genetic factors for BPD may be challenging due to these complex interactions.
Abstract:
Bronchopulmonary dysplasia (BPD) is the chronic lung disease of preterm infants and still represents a major burden of prematurity. Several clinical risk factors for the onset of the disease are already known. In addition, some candidate genes have recently been identified. We set out to determine clinical as well as genetic risk factors for the development of BPD in the German population. 155 infants born with a gestational age < or = 28 at the tertiary neonatal Centre, Freiburg, were recruited. Clinical data were recorded from hospital charts. 47 children developed moderate or severe BPD. For genetic analyses, 37 polymorphisms within sixteen genes were genotyped on all children. The strongest epidemiological risk factor for BPD was birth weight, followed by low gestational age. Genetic association was detected with single polymorphisms within Tumour necrosis factor alpha, Toll like receptor 10 and vascular endothelial growth factor. The former two genes showed also association with BPD in haplotype analyses. In conclusion, association of BPD was far more convincingly found with a few clinical factors than with genetic polymorphisms. This underscores the genetic complexity of the disease. Furthermore, the identification of predisposing genetic polymorphisms might be hampered by the complex interaction between clinical and genetic factors.
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