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A person's metabolism is as unique as their fingerprint, and so is their risk of developing certain diseases. A better understanding of the genetic influences on metabolism could open up new therapeutic options. Researchers at the Berlin Institute of Health at Charité (BIH) and Queen Mary University of London have now created the largest genetic map of human metabolism to date and investigated the effects of our genetic code on blood values such as cholesterol and amino acids. The researchers have published their findings in Nature Genetics.
Our blood can tell us a lot about our health. The amount of molecules in the blood that are produced during our metabolism as intermediate or breakdown products, known as metabolites, can indicate acute and future diseases. High cholesterol levels, for example, can cause the blood fat cholesterol to be deposited in the artery walls. This in turn narrows the vessels and can increase the risk of stroke or heart attack.
We can significantly influence our cholesterol or blood sugar levels through our lifestyle—what we eat, whether we smoke, and how much we exercise. However, even a healthy lifestyle cannot prevent high cholesterol levels in rare cases. So the question is: How much influence does genetic predisposition have on our blood values? This is precisely what researchers at the Berlin Institute of Health at Charité (BIH) and Queen Mary University of London (QMUL) have now investigated.
Genetic analysis through collaboration between science and industry
Using data from half a million people from the UK Biobank, they worked with industry partner Nightingale Health Plc to investigate the effects of different gene variants on the concentrations of 250 molecules in the blood. To do this, the researchers combined genetic data from people in the UK of European, Asian, and African heritage with detailed measurements of their metabolism. "Our work shows how important collaborations between science and industry are, because it was Nightingale Health that made it possible to measure all 500,000 blood samples. This scale and commitment are necessary to reliably identify rare genetic variations that underlie differences in human metabolism and health," says the study's lead author, Claudia Langenberg, head of the Computational Medicine group at BIH and director of PHURI at Queen Mary University of London. The result is a comprehensive genetic map of human metabolism. The effects of genetic variations were similar in women and men as well as in participants of different ethnicities and can therefore be generalized.
Better prevention of heart disease thanks to genetics
“Genetic mapping of metabolism provides an important reference for better understanding the risk of disease based on specific blood values,” says first author Martijn Zoodsma, a postdoctoral researcher at BIH. For example, the researchers identified a new gene called VEGFA that may control aspects of the denser form of cholesterol (HDL). This gene could be a starting point for the development of new drugs that help prevent heart disease. "The development of drugs to lower elevated blood lipid levels has already saved millions of lives, but coronary heart disease as a result of high blood lipid levels is still one of the leading causes of death. We hope that our findings will point to new ways of improving prevention," adds Maik Pietzner, lead author of the study and Professor of Health Data Modeling at BIH and PHURI. The study by researchers at BIH and QMUL is another important step in this direction.
Zoodsma, M. et al. A genetic map of human metabolism across the allele frequency spectrum; Nature Genetics; 03 Oct 2025, doi. 10.1038/s41588-025-02355-3.
https://www.bihealth.org/en/notices/how-genes-affect-our-metabolism Link to the press release
How genes affect our metabolism
Quelle: Anne-Fleur Zoodsma
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