Researchers and scientists from Johns Hopkins University (Boston) and Erasmus Medical Centre in Rotterdam have found mutations in three genes associated with high levels of uric acid in the blood which is one of the causes of gout. The study of the genetic component of gout has been published in the prestigious medical journal The Lancet.
Gout is caused by inflammation of the joints. These inflammation episodes are very painful and can happen because of an increase in the blood’s level of uric acid (medically known as hyperuricaemia). A number of risks factor exist for gout development including: a diet high in meat and cheese, alcohol consumption, obesity, and certain medications. Genetic predisposition was always suspected. Now specific mutations have been found to be related to gout disease.
The study was carried out by analyzing the genome of more than 20,000 people enrolled in two big studies in the US and the Netherlands. More than half a million genetic variations were tested and statistical associations were run against gout risk. The results from this study found that 3 genes, named ABCG2, SLC17A3, and SLC2A9 are associated with an increased risk of developing gout.
The study showed that these three genes are involved in uric acid biochemical pathways in the kidney. Mishandling of uric acid in the kidneys can cause uric acid build-up in the blood, thus, the possibility of a gout episode with joint inflammation and strong pain.
In addition the study was able to develop a “genetic score” for gout predisposition. This score (0 to 6) is based on the number and type of mutations related to gout. A person could be screened for gout mutated genes and a score could be assigned for his (or her) risk.
Implications of the study
The authors believe that this type of study may help combat gout disease. Although there is no specific mention of gene therapy for these genes nor of any specific treatment, authors think that developing a genetic score will be helpful.
If you know that you are at high risk (high score) then doctors could advise you to make changes to your lifestyle that will prevent the occurrence of gout episodes. Knowing your genetic predisposition for gout could be very useful indeed.
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study The Lancet DOI:10.1016/S0140-6736(08)61343-4