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Study finds genetic links for acid and gout





A group of researchers at the Bloomberg School of Public Health at Hopkins, in collaboration with the Netherlands Organisation for Scientific Research (NWO) and the National Heart, Lung and Blood Institute, have recently discovered three new genes related to gout that may aid them in evaluating and treating this prevalent disease.

Gout is a form of arthritis that is caused by the buildup of uric acid, a toxic derivative of DNA metabolism that is usually removed from the blood by the kidneys. This group of scientists discovered two new genes for gout - ABCG2 and SLC17A3 - and confirmed that another gene, SLC2A9, was associated with both the level of uric acid and gout in patients. The study appears in the Oct. 4 issue of the medical journal The Lancet.

"This research gives us a better understanding of the underlying causes of gout, which could lead to better prevention and treatment. Our evidence supports that a common pathway, the handling of uric acid by the kidney, is important in uric acid buildup, and therefore, for the development of gout," assistant professor in the School of Public Health and an author on the study Anna Kottgen said in a press release.

A total of 26,714 people participated in this study, which was divided into two parts. The DNA of about 11,500 people was analyzed to search for single nucleotide polymorphisms (SNPs) that might mark genetic regions linked to high uric acid levels. The SNPs that were found to be associated with uric acid were tested for association with gout in three sets of patients and controls.

The Hopkins researchers have used this genetic information to allow calculation of a genetic risk score that provides a patient with their risk of developing gout.

"Genetic risk scores like the one we developed for gout can help alert people at a very early age,

well before uric acid levels rise, that they are susceptible to gout," Hopkins professor and co-author of the paper Josef Coresh said in the same press release.

"The new insights are promising for drug development," Coresh said. "An important unanswered question is whether we can use genetic risk information to motivate people to change their behavior. For gout, we know that moderate changes in diet and alcohol consumption can lower uric acid levels. In the future, we will need to test if identification of high-risk individuals can lead to behavior change."

Gout occurs when uric acid builds up in joints and crystallizes into a solid form. Hyperuricaemia, or a high concentration of uric acid in the blood, is therefore one of the key risk factors for gout. Gout can be hereditary, and there are known genetic predispositions to hyperuricaemia.

Gout is one of the most common forms of arthritis and affects over two million adults in the U.S. alone. This number is increasing rapidly, raising the already urgent need for an efficient and safe drug to help treat this debilitating condition.





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