Epigenetic biomarkers and preterm birth.

Area of Science:

• Reproductive biology
• Genetics and epigenetics
• Public health

Background:

• Preterm birth (PTB) presents a significant public health concern, necessitating advanced prediction methods.
• Epigenomic markers are explored as stable biomarkers for PTB, unlike transient gene expression.
• Current diagnostics often rely on genetic mutations, missing many PTB cases.

Purpose of the Study:

• To review recent advancements in epigenome assays for PTB prediction.
• To summarize population-level studies on genetic and epigenetic markers for PTB.
• To highlight the potential of epigenomic biomarkers for early PTB identification.

Main Methods:

• Analysis of epigenome assays, including DNA methylation, histone modifications, and chromatin accessibility.
• Review of population-level cohort studies from the USA and globally.
• Focus on genome-wide DNA methylation and epigenome-wide association studies (EWAS).

Main Results:

• Epigenomic markers in accessible tissues like blood may reflect placental epigenetic reprogramming.
• Epigenetic biomarkers hold potential for identifying PTBs unrelated to genetic variants.
• Advances in epigenome assays offer new avenues for PTB prediction.

Conclusions:

• Epigenomic biomarkers show great promise for the early identification of preterm birth.
• Establishing comprehensive biobanks is crucial for future epigenomic marker development.
• Further research is needed to identify effective epigenome biomarkers to improve maternal and infant outcomes.