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Updated: May 9, 2026

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution
Published on: February 24, 2015
DNA methyltransferase candidate polymorphisms, imprinting methylation, and birth outcome
Paul Haggarty1, Gwen Hoad, Graham W Horgan
1Lifelong Health, Rowett Institute of Nutrition and Health, University of Aberdeen, Aberdeen, United Kingdom. p.haggarty@abdn.ac.uk
Epigenetic factors, specifically DNA methylation, influence birth outcomes like birth weight and prematurity. These early life epigenetic events may have long-term health implications.
Area of Science:
- Epigenetics
- Obstetrics
- Perinatology
Background:
- Birth weight and prematurity are critical obstetric outcomes with lifelong health consequences.
- Epigenetic mechanisms are being investigated for their role in determining these birth outcomes.
Purpose of the Study:
- To investigate the association between candidate epigenetic variants and DNA methylation in relation to birth weight, length, placental weight, and gestation duration.
- To explore the impact of these epigenetic factors on neonatal care requirements.
Main Methods:
- Studied a cohort of 1,236 mothers and 1,073 newborns.
- Analyzed four candidate gene variants: DNMT1, DNMT3A, DNMT3B, and DNMT3L.
- Measured LINE1 and imprinted gene (PEG3, SNRPN, IGF2) methylation in cord blood.
Main Results:
- The minor DNMT3L allele in newborns was linked to higher birth weight, length, and placental weight, and reduced need for neonatal care.
- Maternal DNMT3B minor allele was associated with an increased risk of prematurity.
- Placental size correlated with PEG3 and IGF2 methylation; birth weight correlated with LINE1 and IGF2 methylation.
- Neonatal care needs were associated with LINE1 and SNRPN methylation.
Conclusions:
- Epigenetic processes, including DNA methylation, are significantly associated with birth outcomes.
- These early-life epigenetic events may have lasting implications for health throughout life.
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