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Preterm birth buccal cell epigenetic biomarkers to facilitate preventative medicine
Paul Winchester1, Eric Nilsson2, Daniel Beck2
1Department of Pediatrics, St. Franciscan Hospital, School of Medicine, Indiana University, Indianapolis, IN, 46202-5201, USA.
Insights
This study explored epigenetic biomarkers for preterm birth risk using DNA methylation in mother-father-child triads. Findings suggest both parents contribute epigenetically, with potential inheritance in female children, aiding future preventative strategies.
Area of Science:
- Genetics and Epigenetics
- Reproductive Health
- Perinatal Medicine
Background:
- Preterm birth is a leading cause of infant mortality, affecting approximately 10% of live births.
- Current methods for predicting preterm birth susceptibility are limited.
- Epigenetic factors are increasingly recognized for their role in complex health conditions.
Purpose of the Study:
- To develop epigenetic biomarkers for preterm birth susceptibility.
- To investigate the roles of maternal and paternal epigenetic contributions.
- To explore potential epigenetic inheritance of preterm birth risk.
Main Methods:
- Epigenome-wide association study (EWAS) on buccal cells from mother-father-child triads.
- Comparison of DNA methylation patterns between term and preterm birth groups.
- Identification of differential DNA methylation regions (DMRs).
Main Results:
- Distinct epigenetic DMR associations with preterm birth identified in both mothers and fathers.
- Mothers and female children showed the highest number of similar DMRs, suggesting potential epigenetic inheritance.
- DMR-associated genes included previously identified preterm birth risk genes.
- Male children showed negligible DMR associations.
Conclusions:
- Epigenetic factors from both parents may contribute to preterm birth risk.
- Evidence suggests potential epigenetic inheritance of preterm birth susceptibility, particularly in female offspring.
- Identified epigenetic biomarkers may facilitate preventative medicine strategies to reduce preterm birth incidence.
Abstract:
Preterm birth is the major cause of newborn and infant mortality affecting nearly one in every ten live births. The current study was designed to develop an epigenetic biomarker for susceptibility of preterm birth using buccal cells from the mother, father, and child (triads). An epigenome-wide association study (EWAS) was used to identify differential DNA methylation regions (DMRs) using a comparison of control term birth versus preterm birth triads. Epigenetic DMR associations with preterm birth were identified for both the mother and father that were distinct and suggest potential epigenetic contributions from both parents. The mother (165 DMRs) and female child (136 DMRs) at p < 1e-04 had the highest number of DMRs and were highly similar suggesting potential epigenetic inheritance of the epimutations. The male child had negligible DMR associations. The DMR associated genes for each group involve previously identified preterm birth associated genes. Observations identify a potential paternal germline contribution for preterm birth and identify the potential epigenetic inheritance of preterm birth susceptibility for the female child later in life. Although expanded clinical trials and preconception trials are required to optimize the potential epigenetic biomarkers, such epigenetic biomarkers may allow preventative medicine strategies to reduce the incidence of preterm birth.
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