Using Residual Newborn Blood Spots to Investigate CpG Methylation in Relation to Air Pollution and Congenital Heart Defects.

Details

• Alternative Title:
  Birth Defects Research, 2025, v. 117, no. 4: Using Residual Newborn Blood Spots to Investigate CpG Methylation in Relation to Air Pollution and Congenital Heart Defects.
• Journal Article:
  Birth Defects Research
• Personal Author:
  Luben, Thomas J. ; Roell, Kyle ; Harrington, Cailee E. ; Stingone, Jeanette A. ; Ward-Caviness, Cavin K. ; Desrosiers, Tania A. ; Fry, Rebecca C. ; Olshan, Andrew F.
• Description:
  The prevalence of tetralogy of Fallot (TOF), a common congenital heart defect, has increased over the last two decades.
  
  Genome-wide CpG methylation patterns were assessed and analyzed in relation to gestational air pollution exposure among 24 infants with TOF and 24 sex-matched control infants without a birth defect from a North Carolina population-based, case-control study of major structural birth defects (2006-2011). Air pollution exposure during obstetric weeks 3-8 was assigned based on self-reported residence. DNA was extracted from residual newborn blood spots, and DNA methylation levels were measured using the Illumina EPIC Array.
  
  Cases had higher exposure to both PM
  
  and O
  
  compared to controls. No specific CpG loci were statistically significantly associated with TOF status or air pollution exposure; however, we observed associations between TOF case status and DNA methylation at specific genomic regions with genes enriched for functions in metabolism. Additionally, there were significant regions that displayed differential DNA methylation in relation to air pollution exposure within genes involved in apoptosis, necrosis, inflammation, and immune response pathways.
  
  Generally, air pollution exposure and TOF were associated with differential DNA methylation in distinct genes. These results highlight suggestive links between the environment, epigenome, and TOF to be further investigated in larger studies.
• Content Notes:
  Author manuscript
• Subjects:
  • Humans
  • DNA Methylation
  • Infant, Newborn
  • CpG Islands
  • Female
  • Air Pollution
  • Male
  • Case-Control Studies
  • Heart Defects, Congenital
  • Tetralogy of Fallot
  More +
• Keywords:
  • Birth Defects
  • Dried Blood Spots
  • Epigenetics
  • DNA Methylation
  • Air Pollution
• Source:
  Birth Defects Research, 2025, v. 117, no. 4
• DOI:
  https://doi.org/10.1002/bdr2.2473
• ISSN:
  2472-1727
• Pubmed ID:
  40269475
• Pubmed Central ID:
  PMC12799053
• Document Type:
  Text
• Funding:
  EPA999999/ImEPA/Intramural EPAUnited States/ ; P42 ES031007/ES/NIEHS NIH HHSUnited States/ ; R01 ES029531/ES/NIEHS NIH HHSUnited States/ ; CC/CDC HHSUnited States/
• Genre:
  Journal Article
• Place as Subject:
  North Carolina
• Pages in Document:
  e2473 (24 pdf pages)
• Volume:
  117
• Issue:
  4
• Download URL:
  https://stacks.cdc.gov/view/cdc/261460/cdc_261460_DS1.pdf
• File Type:
  [PDF - 808.76 KB]
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha-512:ffdf13cf7769034cf0e5e1f717407db50ad243d69fb7ff6026a2b97d333a2aeeb7f9f0171785ebc7c73de917d0a81f886fe662cd2cfa2a4453be15e45e81b0df