Human metabolic phenotyping and metabolome wide association studies.

Abstract

Metabolic phenotyping in large-scale population studies can yield crucial information regarding the impact and interaction of genetic and environmental factors with regard to the prevalence and risk of chronic diseases. Spectroscopic technologies such as nuclear magnetic resonance (NMR) spectroscopy and mass spectrometry (MS) can be used to generate multi-parameter profiles of biological samples and together with automated sample delivery and mathematical modelling systems, can be used as a high throughput screening tool. The adaptation of these metabolic profiling tools from pre-clinical studies in animal models to population studies in man is explored and an overview of the current and future roles of metabolic phenotyping is described, including the idea of "Metabolome Wide Association Screening" focussing on key disease areas such as cardiovascular disease and metabolic syndrome, cancers and neurodegeneration.