Preterm birth is a major global health problem, affecting 15 million live births globally each year and conferring increased risk for adverse health outcomes in childhood, adolescence and later life to survivors. Early risk detection in infants born preterm could allow stratification and early interventions, but needs to be informed by knowledge of the mechanisms that link in utero factors and adverse health outcomes. A growing body of evidence suggests that “what happens in the womb can last a lifetime”, and this forms the basis of the developmental origins of health and disease (DOHaD) hypothesis. Epigenetic modifications that impact gene expression, such as DNA methylation, have been proposed as a potential molecular mechanism underlying this hypothesis. We want to know if there are certain genomic locations where the level of DNA methylation at birth is able to predict an individual’s later intellectual, respiratory and cardiovascular function, and somatic growth pattern.

The proposed study is the first of its kind to use an epigenome-wide approach to assess the implications of DNA methylation for the long-term health outcomes of preterm birth. We plan to use DNA methylation data from birth and outcome measures in adolescence to investigate whether there is an association between the neonatal epigenetic profile and later neurocognitive, cardiovascular and respiratory function and somatic growth. The ARIES cohort data will be used to attempt to replicate previous findings in separate longitudinal cohort.

This research has the potential to contribute substantially to improving understanding of both how DNA methylation contributes to complex disease development from birth and the aetiology of those adverse health outcomes overrepresented in young adults born preterm.