Uk BioBank
UK Biobank is a large long-term biobank study in the United Kingdom which is investigating the respective contributions of genetic predisposition and environmental exposure to the development of disease. It began in 2006 and its still ongoing collecting prospective data on wide-range of disease outcomes.
Within the UK Biobank our research aim is to use the resource to:
o Identify novel environmental and genetic factors affecting monogenic and common disorders.
o Explore pleiotropic relationships across traits that can help characterize and/or expand current (molecular) disease definitions.
o Construct, calibrate and optimize polygenic risk scores that can aid clinicians in improving healthcare of patients affected with monogenic conditions and complex chronic diseases, by stratifying risk and/or re-evaluate treatment indications.
Novel genetic insights into the molecular mechanisms will provide support to clinical decision-making; in particular for disease screening, diagnosis, prognosis and treatment. More specifically, our group is focusing on the linking between wide range of modifiable risk factors and common disease and their impact on musculoskeletal health.
Published work: Using the UK Biobank resource our team has contributed in the analysis of bone mineral density estimated from heel ultrasound (eBMD) and in the first study we identified 203 loci associated with eBMD [ref] and in the following effort (Ntotal = 426,924) this number was increased to 518 (301 novel) [ref]. These studies highlight the value of expanding the sample size for GWAS and the amazing opportunities to unravel novel biology provided by the approach.