ArticlePediatric research2016
Recurrent copy number variants associated with bronchopulmonary dysplasia.
Article in Pediatric research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases.Journal of translational medicine · 2024Article
- Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.Advanced genetics (Hoboken, N.J.) · 2023Article
- Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.The American journal of psychiatry · 2022Article
- Review
- Copy number variation in human genomes from three major ethno-linguistic groups in Africa.BMC genomics · 2020Article
- Consequences of early postnatal lipopolysaccharide exposure on developing lungs in mice.American journal of physiology. Lung cellular and molecular physiology · 2019Article
- Lung omics signatures in a bronchopulmonary dysplasia and pulmonary hypertension-like murine model.American journal of physiology. Lung cellular and molecular physiology · 2018Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundVariability in the incidence and severity of bronchopulmonary dysplasia (BPD) among premature infants suggests that genetic susceptibility plays a role in pathogenesis. An assessment of copy number variants (CNV) in BPD subjects may help to identify loci that harbor genetic susceptibility factors.
methodsWe conducted a retrospective analysis of clinical DNA microarray data from our institution. We identified 19 BPD subjects, and 2 controls groups (full-term and preterm) with no lung-related disease. We reanalyzed raw data from each of these subjects to identify recurrent CNV loci in BPD subjects.
resultsWe identified three loci (at 11q13.2, 16p13.3, and 22q11.23-q12.1) with recurrent CNV in BPD subjects. The frequency of these CNV was significantly higher in BPD subjects when compared with at least one control group. We interrogated 21 genes residing within the recurrent CNV regions for development-associated changes in expression. Fifteen genes demonstrated significant changes in expression between the pseudoglandular and canalicular stage in human lungs, a time commensurate with birth at highest risk for BPD. We also identified pathways represented by the genes present within the recurrent loci.
conclusionThese data identify novel loci that may harbor genes contributing to the genetic susceptibility of BPD.
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Registered trials
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