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Published on: December 17, 2014
Progress in understanding the genetics of bronchopulmonary dysplasia
Gary M Shaw1, Hugh M O'Brodovich
1Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA 94305, USA.
Insights
Genetic factors may influence bronchopulmonary dysplasia (BPD) in premature infants. While research identifies potential genomic candidates, no specific genes are confirmed to cause BPD, necessitating further investigation into infant lung development.
Area of Science:
- Neonatal Medicine
- Genetics
- Pulmonology
Background:
- Bronchopulmonary dysplasia (BPD) is a prevalent chronic lung disease in infants, causing significant healthcare costs and lifelong respiratory deficits.
- Impaired alveolarization is a known pathophysiological pathway in BPD.
- Heritable factors are increasingly recognized as potential contributors to BPD development in very low birth weight infants.
Purpose of the Study:
- To review recent publications investigating genetic factors associated with BPD heritability.
- To identify potential genomic candidates for BPD etiology.
Main Methods:
- Systematic review of recent scientific literature.
- Analysis of studies examining genetic predispositions to BPD.
Main Results:
- Several potential genomic candidates for BPD have been suggested by recent research.
- No single gene or pathway has been definitively identified as a major contributor to BPD's underlying cause.
Conclusions:
- While genetic factors likely play a role in BPD, further research is required to pinpoint specific genes and pathways.
- Identifying genetic contributors could lead to improved understanding and targeted interventions for BPD.
Abstract:
Bronchopulmonary dysplasia (BPD) is the most common chronic lung disease in infants. Its treatment imposes considerable healthcare burden and costs in the perinatal and early childhood period and patients are usually left with lifelong deficits in lung function. Evidence exists for different pathophysiologic pathways that can promote the structural changes that characterize BPD, including the impairment in alveolarization; however, there is increasing interest regarding heritable factors that may predispose very low birth weight infants to BPD. Our review focuses on recent publications that have investigated genetic factors that may potentially contribute to such reported heritability. These publications point us toward some possible genomic candidates for further study, but certainly do not identify any particular gene or gene pathway that would be inferred to be contributing substantially to the underlying etiology of BPD.
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