We posted the end of March about scientists at the University of Edinburgh who found a gene variation that makes it harder for the body to remove uric acid from the blood. That gene is responsible for coding a protein known as SLC2A9 which is responsible for transporting uric acid across the membranes of the kidney.
Gout results from increased levels of uric acid in the blood. The uric acid is deposited in the form of crystals in the joints, particularly in the big toe and ankle, causing swelling and pain. Variations in the SLC2A9 gene cause some people to have higher levels of uric acid in the blood.
A more recent study conducted by researchers in the U.S. and the Netherlands has confirmed the relationship of SLC2A9 with an increased risk of gout. In addition, they also identified 2 additional genes, ABCG2 and SLC17A3, that also appear to increase the risk of gout. In combination, these 3 genetic variations can increase the risk of developing gout by up to 30 to 40 times.
The researchers analyzed data from 3 long-term health studies including nearly 27,000 people from the U.S. and the Netherlands.
Another key outcome of this study was the scientist’s ability to calculate the participants’ odds of having gout based on the number of the genetic variants they had. This “gout gene risk score” could be used to predict who will develop gout.
This new discovery could lead to the development of new therapies for treatment of gout. There is also a possibility that these genes could also play a role in diabetes and other diseases.
The results of this study were published in the September 30th online edition of the British medical journal The Lancet.