ArticleBMC genetics2018
Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth.
Article in BMC genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Toward precision for bronchopulmonary dysplasia: Moving past current definitions.Journal of perinatology : official journal of the California Perinatal Association · 2026Review
- Phenotype wide association study links bronchopulmonary dysplasia with eosinophilia in children.Scientific reports · 2024Article
- A genome-wide association study reveals the relationship between human genetic variation and the nasal microbiome.Communications biology · 2024Article
- Prospective epigenome and transcriptome analyses of cord and peripheral blood from preterm infants at risk of bronchopulmonary dysplasia.Scientific reports · 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
- Pathogenesis of Bronchopulmonary Dysplasia: Role of Oxidative Stress from 'Omics' Studies.Antioxidants (Basel, Switzerland) · 2022Review
- Rare-variant collapsing analyses identified risk genes for neonatal acute respiratory distress syndrome.Computational and structural biotechnology journal · 2022Article
- The critical role of collagen VI in lung development and chronic lung disease.Matrix biology plus · 2021Review
- Transforming Growth Factor-induced Protein Promotes NF-κB-mediated Angiogenesis during Postnatal Lung Development.American journal of respiratory cell and molecular biology · 2021Article
- Bronchopulmonary Dysplasia Predicted by Developing a Machine Learning Model of Genetic and Clinical Information.Frontiers in genetics · 2021Article
- Eight practices for data management to enable team data science.Journal of clinical and translational science · 2020Article
- Present and Future of Bronchopulmonary Dysplasia.Journal of clinical medicine · 2020Review
- Exome sequencing of extreme phenotypes in bronchopulmonary dysplasia.European journal of pediatrics · 2020Article
- Nutrients and Microbiota in Lung Diseases of Prematurity: The Placenta-Gut-Lung Triangle.Nutrients · 2020Review
- Lymphocyte-Specific Biomarkers Associated With Preterm Birth and Bronchopulmonary Dysplasia.Frontiers in immunology · 2020Article
- Bronchopulmonary dysplasia.Nature reviews. Disease primers · 2019Review
- Article
- FGF Signaling in Lung Development and Disease: Human Versus Mouse.Frontiers in genetics · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 7 institutions in 1 country.
Funding
Abstract
backgroundPrevious studies have identified genetic variants associated with bronchopulmonary dysplasia (BPD) in extremely preterm infants. However, findings with genome-wide significance have been rare, and not replicated. We hypothesized that whole exome sequencing (WES) of premature subjects with extremely divergent phenotypic outcomes could facilitate the identification of genetic variants or gene networks contributing disease risk.
resultsThe Prematurity and Respiratory Outcomes Program (PROP) recruited a cohort of > 765 extremely preterm infants for the identification of markers of respiratory morbidity. We completed WES on 146 PROP subjects (85 affected, 61 unaffected) representing extreme phenotypes of early respiratory morbidity. We tested for association between disease status and individual common variants, screened for rare variants exclusive to either affected or unaffected subjects, and tested the combined association of variants across gene loci. Pathway analysis was performed and disease-related expression patterns were assessed. Marginal association with BPD was observed for numerous common and rare variants. We identified 345 genes with variants unique to BPD-affected preterm subjects, and 292 genes with variants unique to our unaffected preterm subjects. Of these unique variants, 28 (19 in the affected cohort and 9 in unaffected cohort) replicate a prior WES study of BPD-associated variants. Pathway analysis of sets of variants, informed by disease-related gene expression, implicated protein kinase A, MAPK and Neuregulin/epidermal growth factor receptor signaling.
conclusionsWe identified novel genes and associated pathways that may play an important role in susceptibility/resilience for the development of lung disease in preterm infants.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.