Cardiorenometabolic and vascular diseases remain the most common causes of mortality and are projected to increase globally with an aging population as well as with improved care in developing nations. Eye diseases are common, and visual impairment is an important impediment to self-sufficient and independent living. While several epidemiological studies have established common causes of these diseases, large sample sizes are required to detect uncommon determinants, which, although rare, may improve our knowledge of pathophysiology and lead to more specific treatments.
For more uncommon diseases, including cardiomyopathies, pulmonary hypertension, aortic dissection, but also rare cancers such as small intestinal neuroendocrine tumors, gastric cancer, esophageal cancer, disease determinants are largely unknown. Given their low frequency, large sample sizes and long follow-up time are needed to accurately determine risk factors for disease. This will be a focus of the Swedish Cohorts Consortium, entailing ~1 million participants included from the 1960s onward. Findings from this consortium will need validation in an independent cohort (UK Biobank), and to establish possible causal relationships, Mendelian Randomization will be used.
UK Biobank data will be used both for validation of results from Cohorts.se and other Swedish primary studies, as well as for primary studies in UK Biobank regarding determinants of cardiorenometabolic and vascular diseases, certain cancers and eye disease. In addition to standard methodology, searching for disease determinants in an agnostic way, (e.g. by using AI methods) and finding novel genetic determinants, will provide an opportunity for an unbiased and comprehensive assessment of disease determinants. This has the potential to establish novel and unexpected associations that, if validated, may improve our biological knowledge of these diseases.