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Published on: October 31, 2025
The genetic basis for bronchopulmonary dysplasia
Lance A Parton1, Sonya S Strassberg, Dajun Qian
1Division of Neonatology, Department of Pediatrics, New York Medical College, Maria Fareri Children's Hospital, Westchester Medical Center, Valhalla, NY 10595, USA. Lance_Parton@NYMC.edu
Genetic factors likely contribute to bronchopulmonary dysplasia (BPD) susceptibility in preterm infants, alongside environmental influences. Further research is needed to untangle the complex interplay between genetics and environment in BPD development.
Area of Science:
- Neonatal Medicine
- Pulmonary Medicine
- Genetics
Background:
- Bronchopulmonary dysplasia (BPD) was historically linked to iatrogenic effects like oxygen and barotrauma in preterm infants.
- Emerging evidence suggests 'new' BPD involves arrested pulmonary development, with potential genetic underpinnings influencing susceptibility.
- Family, twin, and population studies indicate heritable factors play a role in BPD evolution.
Purpose of the Study:
- To explore the genetic foundations contributing to bronchopulmonary dysplasia (BPD) susceptibility.
- To investigate the role of candidate genes and single nucleotide polymorphisms (SNPs) in BPD development.
- To address the challenges in differentiating environmental, genetic, and gene-environment interaction effects in BPD.
Main Methods:
- Review of studies implicating heritable factors in BPD.
- Examination of candidate genes, including surfactant apoprotein and inflammatory genes.
- Discussion of advanced multiplex analyses for linking single nucleotide polymorphisms (SNPs) to BPD.
Main Results:
- Genetic factors, including specific genes and SNPs, are increasingly recognized as contributing to BPD susceptibility.
- Sophisticated genetic analyses are available to identify potential genetic links to BPD.
- Wide variations in BPD expression persist across neonatal units, highlighting complexity.
Conclusions:
- Both environmental factors and genetic predispositions likely contribute to BPD.
- Distinguishing between isolated genetic causes and environmental/gene-environment interactions remains challenging.
- Carefully designed genetic studies of preterm infants and their families are essential for future understanding.
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