Principal Investigator: Miss Gabriela Sandoval-Plata
Institution: University of NottinghamTags: 45987, genotyping, Gout, hyperuricemia, polygenic risk score
Gout affects one in forty people, and, manifests with episodes of severe joint pain and swelling that typically last for 1-2 weeks. If left untreated, the flares become more frequent, and, irreversible joint damage may result.
Gout occurs due to high urate levels in the body, which deposit inside the joints as urate crystals. Gout flares occur when these crystals are shed. However, only one in ten people with high urate level develops gout. The reasons why only a minority of people with high urate levels develop gout are not well understood. Moreover, knowing which person with high urate level has a high risk of gout will help prevent gout in those at high risk. Apart from this, research suggests that gout associates with high blood pressure, and heart disease. However, it is unknown which individual with gout is at risk of these comorbidities.
Thus, the purpose of this study is to develop a risk score that can identify people with gout from those without gout, and those without gout but with high blood urate levels. Finally, we will also develop a risk score to identify people with gout at risk of developing high blood pressure and heart diseases.
In this study, we will calculate a genetic risk score using all the information from common and rare genetic variants in participants of the UK biobank. Next we will add in information about other lifestyle factors, comorbidities, and medications to find out if this improves accuracy of the prediction score.
In order to generate these prediction scores, we will use data from people with disease of interest i.e. gout or gout and heart disease respectively and controls without these conditions. The controls will be matched to cases for age and sex.
This research will be completed in 2 years and will form part of the PhD thesis of Ms. Sandoval-Plata. The findings of this study will allow people with high urate levels to find out their risk of developing gout, and will help people with gout understand their risk of developing heart disease and hypertension.
People with high risk can be advised to make lifestyle and dietary changes to prevent these illnesses.
This fits the UK Biobank’s purpose of improving the prevention, diagnosis and treatment of life-threatening diseases.