The study, which provides new functional insights regarding associations between risk factors and the development of complex common diseases, has identified 37 previously unknown genetic risk loci, elucidated their effect on human metabolism and found clear associations to diseases such as type 2 diabetes mellitus. Professor Karsten Suhre and Dr Christian Gieger of Helmholtz Zentrum München, together with colleagues from the Wellcome Trust Sanger Institute in the UK and King’s College London under the leadership of Nicole Soranzo, conducted the research to gain in-depth insight into the etiology of disease.
In the study, the scientists present the most comprehensive evaluation of genetic variance in human metabolism so far, combining genome-wide association studies (GWAS) with metabolomics. More than 250 metabolites were analysed from 60 disease-relevant metabolic pathways.
"The advantage of our study design," said Suhre and Gieger "is that we studied genetic variance in its biological context - and thus identified previously unknown risk loci." By combining genetics and metabolomics, a method which already yielded promising results in two previous studies, the scientists were able to evaluate the biological effect of the identified genetic risk loci. In stand-alone GWAS this is not possible.
Every individual is unique - a closer look at the individual’s metabolites could enable a better evaluation of the risks for developing complex common diseases in the future. "We have made considerable advances in understanding complex diseases such as type 2 diabetes mellitus," the two scientists said. "The findings of the study will lead to new approaches for pharmaceutical research."
Reference: Human metabolic individuality in biomedical and pharmaceutical research Suhre K., et. al. Nature online, 1. September 2011