Genetic variants associated with metabolite concentrations in human blood serum are reported in this week’s issue of Nature Genetics.
Concentrations of metabolites, such as biologically relevant amino acids, sugars, and lipids, in blood serum provide specific measurements that reflect biological activity in the body, and often provide clinically useful information. Such metabolic profiles can provide a physiological snapshot of the cells or tissues being analyzed.
Karsten Suhre and colleagues determined the serum concentrations of 163 metabolites in over 2000 individuals. They then scanned the genomes of these individuals and identified nine genetic locations that are each associated with different metabolic measurements. For eight out of the nine regions, the genetic variant is located within or close to genes whose functions are correlated with the production of the associated metabolite.
These results provide insights into the common genetic variants that regulate human metabolism.