German Research Team Elucidates Genetic Variations in Human Metabolism
News Feb 23, 2010
The February issue of the US journal NATURE GENETICS published a study by a German team of researchers who have coupled two global methodologies-metabolite and genome-wide analysis (GWA)-to explore the human metabolism.
In their paper, Karsten Suhre from the Helmholtz Zentrum Munchen and his colleagues present the early implementation of a strategy to systemically assess the genetic basis of chemical individuality. It is this chemical individuality that makes us prone-or immune-to the pathogenic processes we commonly refer to as diseases. Metabolite levels may show marked variations between individuals, some of these variations may be due to genetic factors, and some may be a clear sign of imminent or present disease.
Earlier GWA studies have successfully pinpointed gene loci influencing the risk of disease, and several research groups have also combined GWA with measures of metabolism. So far, however, only few of these studies have been performed in humans.
Building on one of their previous studies in a smaller population, Thomas Illig and colleagues determined metabolite levels in human blood from more than 1809 participants of the KORA population, a German population-based study, and looked for associations between metabolite levels (and metabolite ratios) and common genetic variants. The group identified 15 variants associated with metabolite levels; some of these metabolites are known risk factors for disease.
Many biomarkers are correlated with certain diseases, but such correlation does not necessarily indicate causality. If, however, a metabolite biomarker is correlated with both a disease and a gene variation, causality is highly likely. Not only can such metabolite biomarkers be used to predict and monitor disease, enzymes in the pathway of these metabolites may also turn out to be effective drug targets, enabling the development of individualized treatments.
In treating inflammatory bowel disease (IBD), physicians can have a hard time telling which newly diagnosed patients have a high risk of severe inflammation or what therapies will be most effective. Now researchers report finding an epigenetic signature in patient cells that appears to predict inflammation risk in a serious type of IBD called Crohn’s disease.