New risk genes discovered for gout disease

Pain from too much uric acid: Researchers identify 28 gout-risk genes

12/24/2012

An increased uric acid concentration in the organism can cause gout. In a genome-wide association study, scientists led by Anna Köttgen from the University Medical Center Freiburg have now identified 28 gene variants that are related to the uric acid level and are therefore evaluated as risk factors for gout disease.

The deposition of urinary crystals in the joints leads to swelling, redness, overheating, deformities and pain in the gouty patients. From previous studies it was already known that the disease is largely determined by hereditary components. The international research team headed by Anna Köttgen from the University Hospital of Freiburg has evaluated the genetic material of more than 140,000 people of European descent as part of the Global Urate Genetics Consortium (GUGC) in order to discover the genetic causes of the disease.

Genetics of 140,000 patients evaluated
The 28 identified risk genes have a direct influence on the uric acid concentration and therefore form risk factors for the development of gout disease, the scientists report in the journal Nature Genetics. "The findings provide a basis for the development of new treatments and drugs against the common disease gout," the researchers hope. More than 220 scientists from 14 countries participated in the study. The data from 140,000 patients from more than 70 individual studies in Australia, Europe, Japan and the USA were evaluated. The researchers were able to use the data „Identify genome-wide significant loci“, which are associated with the serum uric acid levels, including 18 new gene variants, write Anna Köttgen and colleagues in the current article. The gene variants would be "associated with an increased uric acid level" and would therefore "influence the development of gout".

Interplay of risk genes and nutrition as a trigger of gout?
Based on the identified risk genes, the researchers also believe that the treatment and prevention of gout can be significantly improved in the future. Overall, the current study contributes to a much better understanding of the disease. As a metabolic disease, gout primarily affects the urea metabolism, which is permanently impaired in the course of the disease and can no longer ensure the degradation or excretion of uric acid to the required extent. Nutrition is also credited with significant influence in this regard, with intake of high levels of uric acid, such as meat consumption at Christmas, leading to acute attacks of gout. Typical symptoms of an acute attack of gout are sudden joint pain with the recognizable external changes of the joints described above as well as concomitant symptoms such as fever or, in rare cases, headache. Without treatment, the acute attack of gout lasts up to three weeks before the symptoms go back to normal. If the disease has already passed into the chronic course, the affected person may no longer have symptom-free periods. They constantly suffer from pain and their joints are clearly deformed. Over time, the kidney is increasingly damaged by the disease and it threatens long-term life-threatening renal insufficiency.

Adapted diet helps against gout
In order to minimize the risk of gout, it is recommended that dieters use foods that contain little or no uric acid, such as apples, eggs, yogurt, squash, potatoes, milk, wholegrain bread or cheese. A dietitian can provide the gout patients with useful hints to lower uric acid levels in the long run. Anyone who already has problems with his uric acid level, this year should better exercise restraint during Christmas dinner and the accompanying alcohol consumption, so as not to risk an acute gout attack. How many people are actually affected by the widespread disease Gicht, it is clear from the information of the German Gout League, according to which 2.8 percent of men and 0.4 percent of women aged between 30 and 59 years in Germany suffer from gout. The prospect of improvements in gout treatment and prevention based on current study results is therefore of considerable societal importance. (Fp)

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Picture credits: Sokaeiko