ArticleAmerican journal of respiratory and critical care medicine2015
Exome Sequencing of Neonatal Blood Spots and the Identification of Genes Implicated in Bronchopulmonary Dysplasia.
Article in American journal of respiratory and critical care medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 86 citations in OpenAlex.
- Bronchopulmonary dysplasia and wnt pathway-associated single nucleotide polymorphisms.Pediatric research · 2022Trial
- Ancestry and genetic associations with bronchopulmonary dysplasia in preterm infants.American journal of physiology. Lung cellular and molecular physiology · 2018Trial
- Effect of Inhaled Nitric Oxide on Survival Without Bronchopulmonary Dysplasia in Preterm Infants: A Randomized Clinical Trial.JAMA pediatrics · 2017Trial
- Pericytes are organ-specific regulators of tissue morphogenesis.Nature communications · 2026Article
- Hyperoxia-induced lung microvascular injury is mediated by endothelial cell-derived WNT5A.Journal of thoracic disease · 2026Article
- A Narrative Review of Gene-Environment Interactions in Pediatric Pulmonology.Pediatric pulmonology · 2026Review
- Toward precision for bronchopulmonary dysplasia: Moving past current definitions.Journal of perinatology : official journal of the California Perinatal Association · 2026Review
- The evolving pathophysiology of bronchopulmonary dysplasia.Physiological reviews · 2026Review
- [Expression and regulatory mechanism of miR-34a in neonatal rat model of bron-chopulmonary dysplasia induced by hyperoxia].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2025Article
- Exploratory analysis of the key role of immune function changes in BPD.Pediatric discovery · 2024Article
- Phenotype wide association study links bronchopulmonary dysplasia with eosinophilia in children.Scientific reports · 2024Article
- Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports.International journal of legal medicine · 2024Article
- Bridging the Gap: Exploring Bronchopulmonary Dysplasia through the Lens of Biomedical Informatics.Journal of clinical medicine · 2024Review
- Early-Life Outcomes in Relation to Social Determinants of Health for Children Born Extremely Preterm.The Journal of pediatrics · 2023Article
- Prospective epigenome and transcriptome analyses of cord and peripheral blood from preterm infants at risk of bronchopulmonary dysplasia.Scientific reports · 2023Article
- A bioinformatics approach towards bronchopulmonary dysplasia.Translational pediatrics · 2023Review
- Development of a blood proteins-based model for bronchopulmonary dysplasia prediction in premature infants.BMC pediatrics · 2023Article
- Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role.European journal of pediatrics · 2023Article
- Validation of disease-specific biomarkers for the early detection of bronchopulmonary dysplasia.Pediatric research · 2023Article
- Early Origins of Chronic Obstructive Pulmonary Disease: Prenatal and Early Life Risk Factors.International journal of environmental research and public health · 2023Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
rationaleBronchopulmonary dysplasia (BPD), a prevalent severe lung disease of premature infants, has a strong genetic component. Large-scale genome-wide association studies for common variants have not revealed its genetic basis.
objectivesGiven the historical high mortality rate of extremely preterm infants who now survive and develop BPD, we hypothesized that risk loci underlying this disease are under severe purifying selection during evolution; thus, rare variants likely explain greater risk of the disease.
methodsWe performed exome sequencing on 50 BPD-affected and unaffected twin pairs using DNA isolated from neonatal blood spots and identified genes affected by extremely rare nonsynonymous mutations. Functional genomic approaches were then used to systematically compare these affected genes. MEASUREMENTS AND MAIN
resultsWe identified 258 genes with rare nonsynonymous mutations in patients with BPD. These genes were highly enriched for processes involved in pulmonary structure and function including collagen fibril organization, morphogenesis of embryonic epithelium, and regulation of Wnt signaling pathway; displayed significantly elevated expression in fetal and adult lungs; and were substantially up-regulated in a murine model of BPD. Analyses of mouse mutants revealed their phenotypic enrichment for embryonic development and the cyanosis phenotype, a clinical manifestation of BPD.
conclusionsOur study supports the role of rare variants in BPD, in contrast with the role of common variants targeted by genome-wide association studies. Overall, our study is the first to sequence BPD exomes from newborn blood spot samples and identify with high confidence genes implicated in BPD, thereby providing important insights into its biology and molecular etiology.
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