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Updated: Apr 29, 2026

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Association between length of gestation and cervical DNA methylation of PTGER2 and LINE 1-HS
Heather H Burris1, Andrea A Baccarelli2, Valeria Motta3
1Department of Neonatology; Beth Israel Deaconess Medical Center and Division of Newborn Medicine; Boston Children's Hospital and Harvard Medical School; Boston, MA USA.
Insights
Epigenetic changes in cervical DNA, specifically PTGER2 and LINE 1-HS methylation, are linked to preterm birth risk factors and gestation length. This research explores environmental impacts on pregnancy duration through DNA methylation patterns.
Area of Science:
- Reproductive Epigenetics
- Environmental Epidemiology
- Perinatal Health
Background:
- Preterm birth affects over 10% of infants globally, increasing mortality and long-term health risks.
- The role of environmental factors in preterm birth via epigenetic mechanisms remains understudied.
- Understanding these links is crucial for developing preventative strategies.
Purpose of the Study:
- To investigate associations between preterm birth risk factors (smoke exposure, education) and cervical DNA methylation of PTGER2 and LINE 1-HS.
- To determine if mid-pregnancy cervical DNA methylation can predict gestation length.
- To identify epigenetic biomarkers for preterm birth risk.
Main Methods:
- Cervical swabs collected from 80 women (16-19 weeks gestation) in a Mexico City birth cohort.
- Pyrosequencing used to analyze DNA methylation of PTGER2 and LINE 1-HS.
- Accelerated failure time models employed to assess methylation's impact on gestation length.
Main Results:
- DNA methylation of both PTGER2 and LINE 1-HS correlated with Pap smear inflammation.
- LINE 1-HS methylation showed associations with smoke exposure, BMI, and parity.
- Higher PTGER2 methylation linked to longer gestations (3.3 days longer per IQR); higher LINE 1-HS methylation linked to shorter gestations (-3.3 days per IQR).
Conclusions:
- Cervical DNA methylation patterns are associated with known preterm birth risk factors.
- Specific DNA methylation markers (PTGER2, LINE 1-HS) show potential as predictors of gestation length.
- Epigenetic modifications in cervical DNA may mediate the effects of environmental exposures on preterm birth.
Abstract:
Worldwide, more than 1 in 10 infants is born prior to 37 weeks gestation. Preterm birth can lead to increased mortality risk and poor life-long health and neurodevelopmental outcomes. Whether environmental risk factors affect preterm birth through epigenetic phenomena is largely unstudied. We sought to determine whether preterm risk factors, such as smoke exposure and education, were associated with cervical DNA methylation in the prostaglandin E receptor 2 gene (PTGER2) and a repetitive element, long interspersed nuclear element-1 Homo sapiens-specific (LINE 1-HS). Second, we aimed to determine whether mid-pregnancy DNA methylation of these regions in cervical samples could predict the length of gestation. We obtained a cervical swab between 16-19 weeks gestation from 80 women participating in a Mexico City birth cohort, used pyrosequencing to analyze DNA methylation of PTGER2 and LINE 1-HS, and examined associations with maternal covariates. We used accelerated failure time models to analyze associations of DNA methylation with the length of gestation. DNA methylation of both sequences was associated with Pap smear inflammation. LINE 1-HS methylation was associated with smoke exposure, BMI and parity. In adjusted models, gestations were 3.3 days longer (95%CI 0.6, 6.0) for each interquartile range of PTGER2 DNA methylation. Higher LINE 1-HS methylation was associated with shorter gestations (-3.3 days, 95%CI -6.5, -0.2). In conclusion, cervical DNA methylation was associated with risk factors for preterm birth and the length of gestation.
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