The Mystery Is Unraveling

Two Major Studies Conducted - One In Europe, One in the US

There is a large amount of new research available today linking a specific gene or genes to gout. Two major studies have been conducted recently confirming the connection between genetics and the onset of gout - addressing the question of why some people get gout and others, living a similar lifestyle, don't. One study, written about on this site, was conducted by the NHLBI's Atherosclerosis Risk in Communities Study (ARIC) based on the findings of the Framingham Heart Study SHARe and the Netherlands Organization for Scientific Research Rotterdam Study.

A separate study has identified genetic variants which are more likely to occur in people with gout, or with aspects which would indicate impaired uric acid processing. The study also confirms the clear effect of environmental factors such as weight, alcohol and red meat on the origin and development of gout.

What Is Gout?

Gout is a type of arthritis which presents with very painful joint inflammation and swelling. It is caused by an overload of uric acid in the blood which, in turn, creates tiny crystals that collect in the joints. Purines, which occur naturally in the body, are broken down by uric acid. Sometimes an abundance of purines are the result of red meat, alcohol and other foods. Uric acid buildup can be caused by an overproduction in the body, or by a faulty system that does not eliminate it from the body quickly enough.

The European Study

Dr. Veronique Vitart and members from the MRC Human Genetics Unit in Edinburgh, as well as from other academic institutions in the UK, Croatia and Germany carried out the research. Their findings were published in the peer-reviewed medical journal, Nature Genetics. In order to confirm the initial results of such a study, it is often replicated in different populations, so there are several parts to this particular study.

The Study's Findings, An Interesting Connection

The researchers were able to establish a biological basis for the interaction and association of certain gene variations in DNA and levels of uric acid in the body. The DNA was analyzed for nucleotide polymorphisms (SNPs) and the researchers were able to identify a possible link between the genes and impaired uric acid processing. One very interesting fact that was discovered was that the protein that is encoded by the SLC2A9 gene (the gene housing the three SNPs recently written about in the US study) was involved in the transportation of both sugar (fructose) and uric acid. This helps to explain the connection between fructose intake and the increase in serum uric acid concentration.

Of course, further investigation and more research will be needed to clarify the relationship between the genes and gout, but the news that the SLC2A9 gene is involved in transporting uric acid may lead successfully to the development of new and better drugs to lower uric acid levels in gout and other conditions as well.