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Genetic predisposition to bronchopulmonary dysplasia
Charitharth Vivek Lal1, Namasivayam Ambalavanan1
1Division of Neonatology, Department of Pediatrics, University of Alabama at Birmingham, 176F Suite 9380, Women and Infants Center, 619 South 19th St, Birmingham, AL 35249-7335.
Seminars in Perinatology
|October 17, 2015
Summary
Genetic factors significantly influence bronchopulmonary dysplasia (BPD) risk. Genome-wide association studies reveal complex genetic underpinnings, varying by BPD severity and ethnicity, necessitating advanced sequencing for personalized genomics.
Area of Science:
- Genetics
- Pulmonology
- Neonatology
Background:
- Genetic factors significantly contribute to the risk variance for bronchopulmonary dysplasia (BPD).
- Previous candidate gene studies have yielded limited, unreplicated results.
- Genome-wide association studies (GWAS) face challenges with stringent p-value thresholds and replication.
Purpose of the Study:
- To review candidate gene and genome-wide association studies for BPD.
- To discuss the complex genetic predisposition and outcomes of BPD.
- To explore emerging genetic insights into BPD development and severity.
Main Methods:
- Review of candidate gene and genome-wide association studies.
- Pathway gene-set analysis.
- Pilot whole exome sequencing.
Main Results:
- GWAS identified SPOCK2, but it lacked replication in North American cohorts.
- Pathway analysis confirmed known lung development pathways and identified novel ones (e.g., adenosine deaminase, miR-219 targets).
- Genetic basis differs between severe and mild/moderate BPD, and varies by race/ethnicity.
Conclusions:
- Understanding BPD genetics requires better phenotyping by severity and pathophysiology, and race/ethnicity analysis.
- Whole exome sequencing is feasible but complex.
- Future translational studies using next-generation sequencing are crucial for personalized genomics in BPD.
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