Largest genetic study into our epigenome published in Nature Genetics

16 September 2021• NEWSITEM

Which genes are 'on' or 'off' in our DNA differs from person to person. Researchers have long wondered what causes these differences. Is it related to our environment? Or is it genetically determined after all? Thanks to a large-scale study by an international consortium, with LUMC playing a leading role, researchers have come one step closer to an answer. In Nature Genetics, they published an atlas of genetic effects on epigenetic factors. This atlas helps researchers in the search for causes of common disorders.

Every cell in our body contains the same DNA with the code for over 20,000 genes. The tuning of those genes, which ones are 'on' or 'off', is called the epigenome and is determined by molecular dimmers attached to the DNA. An example of this is DNA methylation. Researchers have long wondered what causes epigenetic differences between people and how those differences can affect disease and health. 

An atlas

To answer these questions, the Genetics of DNA Methylation Consortium (GoDMC), consisting of 50 universities and institutes with LUMC, the University of Bristol, University of Exeter Medical School and King's College London playing a leading role, carried out the largest genetic study on DNA methylation to date. 

The consortium analysed data from over 30,000 participants from 38 studies. This resulted in more than 270 thousand genetic effects on DNA methylation. This means that almost half of all DNA methylation sites in the genome are influenced to some extent by genetic factors. These results have been compiled in an atlas and published in Nature Genetics. The atlas has already been used for a wide range of research projects. For example, it has been used to search for DNA methylation sites that play a causal role in 100 clinical characteristics and diseases.

Sharp picture

From the LUMC, Professor of Population Epigenetics Bas Heijmans is one of the leaders of this research project. "Thanks to cooperation between scientists from all over the world, we now have an unprecedentedly sharp picture of the influence of genetics on our epigenetics. This allows us to look for causes of common diseases, as in my research group's case: cardiovascular disease."

More information van be found in the press release of the University of Bristol.

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