Principal Investigator: Associate Professor Tony Merriman
University of Otago, Department of Biochemistry, 710 Cumberland Street, Dunedin, Otago 9016, New ZealandTags: 12611, Gout, GWAS
1a: Gout is a form of arthritis with the primary cause elevated levels of uric acid. In some but not all people the uric acid crystallises in the joints with gout resulting from a painful immune system response. Genetic causes of elevated uric acid are relatively well understood, however knowledge of the genetic factors controlling crystallisation of uric acid and subsequent immune response are extremely poorly understood. Therefore the aim of the proposed research is to identify genetic variants that influence the risk of gout, particularly those controlling crystallisation and immune response.
1b: UK Biobank has the aim of improving the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses. Gout is a serious illness. It affects up to 3% of adults in Westernised countries and can be a disabling form of arthritis in some people. It is also associated with other serious metabolic conditions such as diabetes and heart and kidney disease. With our aim to find out why some people get gout and others don’t, the proposed purpose directly meets the UK Biobank’s stated purpose.
1c: We will create a group of people with gout and a group without gout, matched by age and sex. Gout will be defined as those with doctor diagnosed gout, as determined from the medical records. We will then take the genome-wide genotype data and scan the genome for genetic variants that have a statistically significant difference between people with and without gout. These genetic variants will pinpoint genes involved in gout. To determine which genes are involved in crystallisation and immune response we will also compare to people with elevated uric acid but without gout.
1d: All people of European Caucasian ancestry with doctor-diagnosed gout from medical records (10-15,000). Two age- and sex-matched controls for every case (20-30,000). A separate group of asymptomatic hyperuricaemic controls (20-30,000). We would select the participants, therefore we request access to the entire dataset.