Genetic Modifiers of Patent Ductus Arteriosus in Term Infants

Details

• Alternative Title:
  J Pediatr
• Personal Author:
  Patel, Priti M ; Momany, Allison M ; Schaa, Kendra L ; Romitti, Paul A ; Druschel, Charlotte ; Cooper, Margaret E ; Marazita, Mary L ; Murray, Jeffrey C ; Dagle, John M
• Description:
  Objective
  
  To identify single nucleotide polymorphisms (SNPs) in specific candidate genes associated with patent ductus arteriosus in term infants.
  
  Study design
  
  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 Defect Prevention Study (NBDPS). We performed transmission disequilibrium testing using a panel of 55 SNPs in 17 genes. Replication of SNPs with p<0.1 in the NBDPS trios was performed using a case-control strategy in an independent population.
  
  Results
  
  Transmission disequilibrium test (TDT) analysis of the NBDPS trios resulted in 6 SNPs reaching the predetermined cutoff (p<0.1) 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 PDA in both populations after correcting for multiple comparisons. (rs934328, TDT p=2×10−4, case-control p=6.6×10−5).
  
  Conclusions
  
  These findings confirm the importance of the TGF-beta pathway in the closure of the term ductus arteriosus and may suggest new therapeutic targets.
  
  
• Subjects:
  Article Candidate Gene CREBB Ductus Arteriosus, Patent Genes, Modifier Genetic Association Studies Genotype Humans Infant, Newborn Polymorphism, Single Nucleotide Term Birth TGFBR2 TRAF1

  More +
• Source:
  J Pediatr. 176:57-61.e1
• Pubmed ID:
  27344223
• Pubmed Central ID:
  PMC5003735
• Document Type:
  Journal Article
• Funding:
  P30 ES005605/ES/NIEHS NIH HHS/United States ; U01 DD001035/DD/NCBDD CDC HHS/United States ; R01 HD052953/HD/NICHD NIH HHS/United States ; T32 GM108540/GM/NIGMS NIH HHS/United States ; R01 HL109199/HL/NHLBI NIH HHS/United States
• Volume:
  176
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:3aa482a0e291ae6f9da549440614f6863917d283967da3e39407117981913964
• Download URL:
  https://stacks.cdc.gov/view/cdc/82842/cdc_82842_DS1.pdf
• File Type:
  [PDF - 71.38 KB ]