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12 October 2023
Groundbreaking genomics project will improve global diversity in population health insight

An international collaboration is aiming to improve global health by uncovering the effects of genomic and environmental diversity on differences in disease risk observed across the global population, thanks to a new partnership of 20 research groups from around the world.

The groundbreaking five-year project, led by researchers in the University of Bristol, the MRC Unit The Gambia at London School of Hygiene & Tropical Medicine and the CSIR Centre for Cellular and Molecular Biology in India, will explore key population health questions using datasets from across African, Asian, and North and South American continents.

The Diverse Epigenetic Epidemiology Partnership (DEEP) study, funded by the Medical Research Council, will generate genomic datasets in underrepresented populations. The DEEP study will develop software and infrastructure and conduct advanced statistical analyses to build new resources. These new resources will sit alongside international health and genetics databases to look at trends in variation in DNA methylation - a process where chemical groups attach to DNA in order to help to turn genes on and off.

Levels of DNA methylation differ from one person to another and are influenced by both genetic makeup and environmental factors. Differences in DNA methylation patterns are critical factors associated with a range of measures of health and disease. By analysing DNA methylation data and health-related measures from people around world, the DEEP study aims to identify causes and mechanisms of these health outcomes.

There is huge variation in disease onset and symptoms for people living in different global regions. Much of the population health research conducted to date has drawn heavily on data collected from people of white European origins. This means that many global communities are often under-represented in health studies and the important effects of genetic and environmental diversity on health within those communities can be missed, for example the huge genetic diversity across Africa.

The DEEP study researchers aim to bridge this gap by studying individuals representing diverse genetic and environmental contexts and learn which DNA methylation patterns contribute to their disease risk in each context. This research will enable identification of disease-causing mechanisms that are common worldwide and those which are unique to particular groups or regions. It will help with answering questions such as whether medicines developed in one part of the world will be effective for all. Ultimately the DEEP study hopes to enable targeted interventions or treatments and reduce global health disparity and inequity.

Dr Josine Min, Research Fellow in Genetic and Epigenetic Epidemiology at the MRC Integrative Epidemiology Unit (MRC IEU) at the University of Bristol, and joint project lead, said: ”Current DNA databases are mainly European. Genetic databases for genomic research need diversity to help all people and to get a better understanding of which factors are causing differences in gene regulation and therefore differences in disease risk.”

Dr Hannah Elliott, Research Fellow in Epidemiology in the MRC IEU at the University of Bristol, and joint project lead, added: “This project will vastly expand our current knowledge about DNA methylation variation and human health. Key to our project’s success is equitable collaboration between our project partners worldwide.

“It is really important to work with partners who understand health in their respective cohorts and who are able to effectively share results back with the local communities who have donated their DNA.”

Dr Giriraj Chandak, Sir J C Bose Fellow at the CSIR Centre for Cellular and Molecular Biology, India, and co-investigator, explained: “This collaborative study involving scientists with varied expertise provides a unique opportunity to understand gene-gene and gene-environment interaction and their role in intermediate traits associated with non-communicable diseases or the disease itself.

“I am very excited at the inclusion of Indian cohorts, (representing a sixth of the world population) with longitudinal data on subjects making it possible to draw causal inferences, in association with the trans-ancestry cohorts.”

Dr Prachand Issarapu, Research Fellow in Bioinformatics at the MRC Unit The Gambia at London School of Hygiene & Tropical Medicine, UK and The Gambia, and co-investigator, said: “Understanding disease pathways that resonate across populations is key to crafting universally effective medicine. The DEEP study will unravel both population-specific and pan-ancestry (epi)genetic underpinnings, offering crucial insights into the determinants of human health and disease.”

The project will initially focus on early-life health, which is a particular interest to the partners in Africa, and cardiovascular health, which is important to the partners in India.

The project welcomes participation from additional partners who have collected DNA methylation and genetic data.