Metabolic Individuality
Associations between metabolite concentrations and genetic variants showing the high metabolic individuality in the general population.
Research Highlights
- Human metabolic individuality in biomedical and pharmaceutical research
In this study, we identified 37 previously unknown genetic risk loci, elucidated their effect on the human metabolism and found clear associations to complex common diseases such as type 2 diabetes mellitus. We conducted this research to gain in-depth insight into the etiology of disease and present the most comprehensive evaluation of genetic variance in human metabolism so far, combining genome-wide association studies (GWAS) with metabolomics. Over 250 metabolytes were analyzed from 60 disease-relevant metabolic pathways.
Published in Nature, 2011. Article Server
- A genome-wide association study of metabolic traits in human urine
This study is the first in a large series of studies in which metabolic products in urine are examined with the aid of nuclear magnetic resonance (NMR) spectroscopy and subsequently compared with genetic data. We were able to identify 59 metabolic products in urine samples from about 2,000 participants in the Greifswald SHIP Study and from about 1,000 subjects who took part in the KORA Study. Data from the urine was evaluated along with the genetic information from the subjects’ blood. We were thus able to connect the pattern of the metabolic products in the urine with the subjects’ genes.
We identified five genetic regions which in the past have been connected to widespread diseases of the kidney (renal insufficiency) or the heart (coronary heart disease).
Published in Nature Genetics, 2011. Article