What is Gout?

Though families share genetic material, they also tend to adopt the same lifestyle behaviors such as what they eat and where they live. This relationship makes it difficult to determine the extent that either genetics or the environment influences particular diseases, such as gout. Gout is caused by an increase in blood uric acid levels leading to deposits of urate crystals in the joints. These crystals trigger inflammation creating pain and eventually leading to arthritis and joint disability if left untreated. Lifestyle habits which produce constant excessive uric acid levels are believed to be the main factors behind the development of gout.

New research has demonstrated that some individuals may have an increased risk of developing gout based on their genetic profile. Multiple genetic changes in the DNA encoding for two proteins, ABCG2 and SLC2A9, have been significantly associated with a higher risk of developing gout. How high? Well, that’s still under debate. What is clear is that having a combination of these genetic changes resulted in a large effect on uric acid levels and gout prevalence. Both ABCG2 and SLC2A9 are newly identified urate transporters meaning these proteins are necessary for the process of transporting urate out of the body. It is likely that changes to these proteins could affect an individual’s ability to process large amounts of diet derived uric acid.

Who should be tested for gout associated genetic mutations?

Currently, there are no standard guidelines or suggestions for monitoring genetic changes associated with increased gout risk in the general public. Given that serum uric acid levels effectively predict gout risk, there is not an established need to test for genetic risk factors. However, individuals with the following conditions who are concerned about their risk of gout should discuss their personal history with their physician to see if genetic testing is suitable for them:

  • Do you have a relative who was diagnosed with gout and do you practice lifestyle behaviors that are typically associated with gout such as a diet rich in fat and protein, excessive alcohol consumption, and overall obesity?
  • Do you require the use of medications known to increase uric acid levels such as some hypertension drugs or low-dose aspirin regimes?

Furthermore, individuals who are interested in management of their uric acid levels may find genetic testing necessary.

How can you take action if you have gout associated genetic mutations?

If you are already predisposed to gout through genetic changes, modifying lifestyle habits that are potential causes for gout may aid in the prevention or management of this disease. These habits would be to avoid food containing excessive fat and protein, limit alcohol consumption, and maintain a healthy weight. Monitoring your total fluid intake to ensure proper hydrate is also suggested for people who are susceptible to increased uric acid levels.

How can genetic testing affect your total health?

Gout typically affects men at an initial age of 40 to 50 years while it is seen most commonly in postmenopausal women. Gout is managed by altering lifestyle factors though sometimes it can be hard to identify the exact triggers. Genetic testing for increased risk of gout may ultimately provide additional information allowing for better management of personal uric acid levels.

Websites for more information:

Gout and uric acid education society

Arthritis Foundation

 

Dehghan A, Köttgen A, Yang Q, et al. Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet. 2008;372(9654):1953-61.

Reginato AM, Mount DB, Yang I, et al. The genetics of hyperuricaemia and gout. Nat Rev Rheumatol. 2012;8:610-21.

Vitart V, Rudan I, Hayward C, et al. SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet. 2008;40:437-42.

Woodward OM, Köttgen A, Köttgen M. ABCG transporters and disease. FEBS J. 2011;278(18):3215-25.

 

Last Reviewed 27/Feb/2014

 

 

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Michelle Thiaville PhD

Michelle Thiaville is a research scientist who is interested in the connections between personal genetics, nutrition, and cancer. She has published multiple articles in prominent scientific journals detailing her findings.