title: Recurrent copy number variants associated with bronchopulmonary dysplasia.
abstract: Variability 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.
  
  
  
  We 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.
  
  
  
  We 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.
  
  
  
  These data identify novel loci that may harbor genes contributing to the genetic susceptibility of BPD.
authors.affiliation: Division of Neonatology, Department of Pediatrics, University of Rochester Medical Center, Rochester, New York.|Department of Pediatrics, Pediatric Molecular and Personalized Medicine Program, University of Rochester Medical Center, Rochester, New York.
authors.forename: Ausaf
authors.initials: A
authors.lastname: Ahmad
authors.affiliation: Division of Neonatology, Department of Pediatrics, University of Rochester Medical Center, Rochester, New York.|Department of Pediatrics, Pediatric Molecular and Personalized Medicine Program, University of Rochester Medical Center, Rochester, New York.
authors.forename: Soumyaroop
authors.initials: S
authors.lastname: Bhattacharya
authors.affiliation: Department of Pathology & Laboratory Medicine, University of Rochester Medical Center, Rochester, New York.
authors.forename: Arthi
authors.initials: A
authors.lastname: Sridhar
authors.affiliation: Department of Pathology & Laboratory Medicine, University of Rochester Medical Center, Rochester, New York.
authors.forename: Anwar M
authors.initials: AM
authors.lastname: Iqbal
authors.affiliation: Division of Neonatology, Department of Pediatrics, University of Rochester Medical Center, Rochester, New York.|Department of Pediatrics, Pediatric Molecular and Personalized Medicine Program, University of Rochester Medical Center, Rochester, New York.
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Mariani
mesh_terms: D001997:Bronchopulmonary Dysplasia / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007234:Infant, Premature; D008168:Lung / Q000503:physiopathology; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D012189:Retrospective Studies; D012307:Risk Factors