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Genetics of bronchopulmonary dysplasia: An update

Pascal M Lavoie1, Jonathan H Rayment2

  • 1Division of Neonatology, Department of Pediatrics, University of British Columbia, Vancouver, Canada; BC Children's Hospital Research Institute, Vancouver, Canada.

Seminars in Perinatology
|September 29, 2023
PubMed

Insights

Bronchopulmonary dysplasia (BPD) has genetic links, with common variants and rare mutations in genes like ABCA3 influencing susceptibility and disease course in preterm infants.

Area of Science:

  • Neonatal Medicine
  • Genetics
  • Pulmonology

Background:

  • Bronchopulmonary dysplasia (BPD) is a complex lung disease in preterm infants, influenced by factors like lung immaturity, ventilation, and oxidative stress.
  • Genetic predisposition to BPD is suggested by twin studies, with emerging evidence linking common genetic variants to disease risk.
  • Rare mutations in genes crucial for surfactant production, such as ABCA3, SFTPB, and SFTPC, can cause severe neonatal lung disease and may impact BPD.

Purpose of the Study:

  • To review the current understanding of the genetic factors contributing to bronchopulmonary dysplasia.
  • To explore the role of both common genetic variants and rare mutations in BPD etiology and severity.

Main Methods:

  • Review of existing literature on the genetics of BPD.
  • Analysis of findings from twin studies, genetic association studies, and genomic research.
  • Examination of the impact of specific gene mutations (ABCA3, SFTPB, SFTPC) on neonatal lung disease.

Main Results:

  • Genetic susceptibility plays a significant role in BPD development.
  • Common genetic variants are associated with BPD in preterm populations.
  • Rare mutations in surfactant-related genes can lead to severe neonatal lung conditions, potentially influencing BPD.

Conclusions:

  • Genetics is a key determinant in BPD, alongside clinical factors.
  • Further research into genetic variants and pathways is crucial for understanding and managing BPD.
  • Identifying genetic predispositions may offer new avenues for BPD prevention and treatment.

Keywords:
ATP-binding cassetteBronchopulmonary dysplasiaGene expressionGeneticsInfantMember 3PrematureSub-family ASurfactant proteins

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