Cohort Profile: The Oxford Biobank

Major progress has been made over the past decade in the understanding of the genetic background to chronic metabolic disease such as type 2 diabetes (T2D) and atherosclerotic cardiovascular disease (CVD). These disorders show a significant degree of heritability and disease pathogenesis that rely on the combination of a multitude of unfavourable genotypes on which over-nutrition, lack of physical exercise, obesity and smoking augment the phenotype. Currently, the number of common genetic variants robustly associated with CVD and T2D are increasing with the increasing size of discovery cohorts; for CVD, the number now exceeds 50 variants and for T2D and glycaemic traits, the corresponding number is about 75. Combining several genome-wide association studies (GWAS) datasets which include information on highly relevant intermediate phenotypes has potentially helped in discovery and replication of several disease loci and identification of novel pathways and pleiotropic genes. However, little is known about the functional consequences of most of the identified gene variants. The use of well-characterized bioresources, in which investigations into intermediate phenotypes can be performed, will be invaluable in order to provide mechanistic insight into these poorly characterized genes and thus promote translational research. To this end the Oxford Biobank (OBB) was set up with the primary goal of establishing a local cohort accessible for genomic translational research. The resource is built to enable studies on physiological consequences of genetic mechanisms of disease. A leading principle has been to seek informed consent from participants to be reapproached for future discrete projects. Therefore, based on the information gathered during a baseline visit, ‘recruit-by-genotype’ (RbG) and ‘recruit-by-phenotype’ (RbP) projects allow for detailed investigations of associations between genotypes and biomarkers, or monitoring of more detailed physiological processes. The OBB serves as a resource for researchers to investigate mechanisms leading to increased T2D and CVD susceptibility and to explore novel therapeutic targets in the prevention and treatment of chronic non-communicable diseases.