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How does epigenetics fit in?

 By Greg Jones

The study of epigenetics could well be a key tool in transforming valuable genomic information into useful health outcomes for New Zealanders.

But what is epigenetics and why is it important?

Epigenetics is the influence of genetic susceptibility combined with the complex interactions of each individual’s environment over their lifetime. An individual’s epigenome is a dynamic personalised profile of environmental stress exposures, influenced by things like diet, gut microbiota, toxin and drug exposure, psychological and physical stressors and levels of activity throughout life.

The field of epigenetics could have an important role in precision medicine – an emerging approach for disease management that tailors treatment to the individual, based on their genes and environment.

Measuring the epigenetic changes that occur in diseases, including cancer and heart disease, provides an understanding of the underlying mechanisms. This insight can then help to develop targeted, more precise diagnoses and treatment strategies.

This is a fast-moving global research field which has very real advantages for New Zealand.

Our Genomics Aotearoa research project is investigating how epigenetic markers such as DNA methylation may reflect the interaction between an individual’s inherited genome and their environment.

This research excites me because it has enormous potential to improve personalised detection and management of chronic diseases in Aotearoa/New Zealand.

epigenetics diagram

Diagram modified from Baccarelli et al., 2010, Circulation Cardiovascular Genetics, 3:567-573

DNA methylation is a chemical modification that makes specific parts of our genetic ‘code’ harder or easier to read (a bit like underlining words in a passage of text) and is the most well understood of the epigenetic processes that switch genes on and off.

Because it reflects exposure to environmental risk factors like smoking, diet, stress or exercise, this biological mechanism may be a good next-generation indicator of health and disease risk.

For example, smoking, a strong modifiable risk factor for both cardiovascular disease and many cancers, is robustly associated with highly specific DNA methylation changes within multiple genes known to influence toxin processing, inflammation and tumour formation.

The aim is to use such markers as accurate, personalised, indicators of lifetime exposure to environmental stressors.

DNA methylation epigenetic markers appear to be relatively stable, changing comparatively slowly over an individual’s lifetime, and as such are in striking contrast with many other disease biomarkers which are known to fluctuate dramatically over short time periods and can, therefore, be less reliable.

Their potential warrants investigation.

We want to understand the processes which influence epigenetic markers, and plan to investigate if such markers can be developed into reliable predictors of disease, so clinicians can use them as diagnostic tools.

Being able to predict disease gives New Zealand options. Health researchers and practitioners can use this information to develop treatments and strategies to manage some of the country’s major issues like heart disease, something I’m sure could have a positive influence on the future health of all New Zealanders.

Professor Greg Jones leads the Epigenome-Wide Association Study Technology project for Genomics Aotearoa. This project aims to streamline the analysis of population-level epigenetic datasets, in particular focusing on developing and establishing Epigenome-wide Association Study methods across several national research groups. It’s hoped this will produce new pipelines and tools for New Zealand researchers.

Find out about Epigenome-Wide Association Study Technology here.