Scientists have recently leveraged the massive amount of human health and genetic data in the UK Biobank to learn more about how small variations in the sequences of genes are related to metabolic differences. This data included genetic and metabolomic information from half a million people, and focused on genetic variants that were associated with changes in the levels of 250 small molecules that are relevant to cardiovascular health and metabolism. The work, which was reported in Nature Genetics, identified genes that are important to metabolism, and created a kind of human metabolic map.
While this study can serve as a resource that informs new research and opens up many new scientific questions, it also revealed more about human metabolism. The investigators determined that metabolites are under genetic control, a finding that was similar among people of various ancestries. The work has identified novel genes that are important to metabolism as well.
Although human metabolism is influenced by many things including modifiable factors like diet, physical habits, and lifestyle, genetics are also a factor.
This research has identified genes that influence metabolism as well as disease risk. For example, this research showed that a gene known as VEGFA may help control a type of cholesterol called HDL; this gene could provide a new avenue to develop drugs that prevent cardiovascular disease. Heart disease remains the leading cause of death among adults in the US, and worldwide.
"We are now able to map systematically the genetic control of hundreds of blood molecules, at an unprecedented scale. This provides a powerful reference to understand disease risk and identify genes that contribute to variability in metabolism,” said first study author Martijn Zoodsma, a postdoctoral researcher at the Berlin Institute of Health at Charité (BIH).
"The development of blood lipid-lowering medications, such as statins, has saved numerous lives, but heart diseases remain the major killer. 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,” added co-corresponding study author Maik Pietzner, a Professor of Health Data Modeling at BIH, among other appointments.
Sources: Queen Mary University of London, Nature Genetics
