Genome-wide association studies with metabolomics

Abstract

Disturbances in metabolism are at the root of a variety of human afflictions and complex diseases. Although many of the genes that contribute to these conditions have been identified since the completion of the human genome by genome-wide association studies, it is still unclear for many of these genetic variants how they disrupt cellular processes. In this chapter we shall present the concept of genome-wide association studies with metabolomics. These studies show how combining two highly sophisticated biochemical measurement methods, genetics and metabolomics, applied to only a small amount of blood, can reveal deep insights into the genetic makeup of the human body's metabolic capacities. In addition to providing functional insights into the genetic basis of metabolic traits and complex diseases, study of what we call genetically determined metabotypes is a way to understand an individual's uniqueness. These genetically determined metabotypes may modify the risk of an individual to develop a disease, the response to medication and therapy, and the reaction to environmental challenges and thereby help to develop highly targeted, personalized therapies and enable novel types of treatments or prevent adverse drug reactions.