title: Genetic Modifiers of Patent Ductus Arteriosus in Term Infants.
abstract: To identify single-nucleotide polymorphisms (SNPs) in specific candidate genes associated with patent ductus arteriosus in term infants.
  
  
  
  We conducted an initial family-based, candidate gene study to analyze genotype data from DNA samples obtained from 171 term infants and their parents enrolled in the National Birth Defects Prevention Study (NBDPS). We performed transmission disequilibrium testing (TDT) using a panel of 55 SNPs in 17 genes. Replication of SNPs with P < .1 in the NBDPS trios was performed with a case-control strategy in an independent population.
  
  
  
  TDT analysis of the NBDPS trios resulted in 6 SNPs reaching the predetermined cutoff (P < .1) to be included in the replication study. These 6 SNPs were genotyped in the independent case-control population. A SNP in TGFBR2 was found to be associated with term patent ductus arteriosus in both populations after we corrected for multiple comparisons. (rs934328, TDT P = 2 × 10(-4), case-control P = 6.6 × 10(-5)).
  
  
  
  These findings confirm the importance of the transforming growth factor-beta pathway in the closure of the term ductus arteriosus and may suggest new therapeutic targets.
authors.affiliation: Department of Pediatrics, University of Illinois College of Medicine, Peoria, IL, US.
authors.forename: Priti M
authors.initials: PM
authors.lastname: Patel
authors.affiliation: Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA US.
authors.forename: Allison M
authors.initials: AM
authors.lastname: Momany
authors.affiliation: Department of Veterans Affairs, Office of Research and Development, Washington, D.C., US.
authors.forename: Kendra L
authors.initials: KL
authors.lastname: Schaa
authors.affiliation: Department of Epidemiology, University of Iowa, Iowa City, IA, US.
authors.forename: Paul A
authors.initials: PA
authors.lastname: Romitti
authors.affiliation: Congenital Malformations Registry, New York State Department of Health, Albany, NY, US.|Dept of Epidemiology and Biostatistics, University of Albany School of Public Health, Rensselaer, NY, US.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Druschel
authors.affiliation: Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, PA, US.
authors.forename: Margaret E
authors.initials: ME
authors.lastname: Cooper
authors.affiliation: Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, PA, US.|Department of Human Genetics, University of Pittsburgh, PA, US.
authors.forename: Mary L
authors.initials: ML
authors.lastname: Marazita
authors.affiliation: Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA US.
authors.forename: Jeffrey C
authors.initials: JC
authors.lastname: Murray
authors.affiliation: Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA US.
authors.forename: John M
authors.initials: JM
authors.lastname: Dagle
mesh_terms: D004374:Ductus Arteriosus, Patent / Q000235:genetics*; D060045:Genes, Modifier; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D020641:Polymorphism, Single Nucleotide; D047929:Term Birth
keywords: CREBB; TGFBR2; TRAF1; candidate gene