Less studied diseases

Through linkages with health insurance systems, CKB has collected health information about less studied diseases, including eye diseases, chronic kidney disease, chronic liver diseases, and autoimmune disease. These conditions contribute importantly to global burdens of premature deaths, disability, and healthcare cost, but their incidence, prognosis and aetiologies are still under researched, particularly in low- and middle-income countries, including China. Moreover, each of these disease area includes a diverse range of disease types or subtypes, with different aetiology, for example, common eye diseases include cataract, glaucoma and retinopathy and autoimmune diseases include type 1 diabetes, lupus, multiple sclerosis, rheumatoid arthritis, psoriasis and nearly 100 other distinct conditions. For certain diseases the incidence patterns differ greatly between different populations, for reasons that are still not properly understood, for instance, the major subtype of glaucoma in China is primary angle-closure glaucoma while in Western populations it is primary open-angle glaucoma.

CKB provides a unique opportunity to undertake large-scale epidemiological studies of these diseases in China.

Our current and planned work aims:

1. to assess, validate and improve the quality of disease diagnoses collected through routine health insurance systems and if necessary, to undertake, separate outcome adjudications to improve disease phenotypes;
2. to examine the incidence, prognosis, and management of specific diseases and their associations with lifestyle, environmental and genetic factors;
3. to identify aetiological pathways of specific diseases using emerging omics data (ie genomics, metabolomics and proteomics) and to validate the findings in other non-Chinese populations;
4. to determine the likely cause-effect associations of lifestyle factors (eg alcohol drinking) and physical traits (e.g. adiposity) with certain specific diseases, using a Mendelian randomisation approach;
5. to develop risk prediction models and explore the potential impacts on mortality and healthcare cost caused by these diseases.

To address these research questions, we will also use data from other biobanks eg UK Biobank and will seek close collaboration with academic and industry partners.