Study links 750 genes' role in metabolism via impact on blood levels of molecules

Researchers have traced around 750 genes potentially contributing to metabolism in humans by influencing amounts of 250 molecules, including lipids and amino acids, in blood — findings could apply across ancestries and genders, they said.

The team, led by researchers at the Berlin Institute of Health at Charité-University Medicine Berlin, Germany, and Queen Mary University in London, analysed genetic data of around 4.5 lakh individuals of European, African and Asian ancestry from the UK Biobank.

Results published in the journal Nature Genetics show that the genes controlling the activity of metabolites were found to be similar across ancestries, and between men and women —suggesting that the results could likely be applied to a wider population, the researchers said.

The genes discerned in the study included those previously unknown to contribute to metabolism and therefore, the findings may offer new insights in metabolic pathways and human health, they said.

The authors "identify 29,824 locus-metabolite associations mapping to 753 regions with effects largely consistent between men and women and large ancestral groups represented in UK Biobank."

The team also showed that genes controlling activity of blood metabolies overlap with disease and thus, may put an individual at a higher risk of disease.

For example, a gene called 'VEGFA' which the authors newly identified to possibly control aspects of a denser form of cholesterol (HDL) may help develop new medicines to prevent heart diseases, they said.

"We are now able to map systematically the genetic control of hundreds of blood molecules, at unprecedented scale. This provides a powerful reference to understand disease risk and identify genes that contribute to variability in metabolism," lead author Martijn Zoodsma, postdoctoral researcher at the Berlin Institute of Health, said.

Senior author Maik Pietzner, professor for health data modelling at BIH and Queen Mary's Precision Health University Research Institute (PHURI), said heart diseases continue to be a major killer, despite the development of blood lipid-lowering medications, such as statins, which have saved numerous lives.

"Our results highlight potential avenues that will hopefully lead to new medicines to prevent even more deaths from lipid plaques building in people's arteries," Pietzner said.