In a new study, researchers used a method called genome-wide association to illuminate the genetic underpinnings of high serum urate, the blood condition that brings on gout.
The finding will inform efforts to develop screening tests for gout risk as well as potential new treatments.
The research was co-led by scientists at Johns Hopkins.
In their analysis, the researchers combined DNA and serum urate data from 457,690 individuals participating in 74 studies, and revealed 183 sites, or “loci,” in the genome where DNA variations are strongly associated with high urate levels.
The vast majority of these loci had not been identified in previous studies.
The researchers mapped many of the loci to specific genes and found that a large proportion are active in liver and kidney cells, sites of urate generation and excretion, respectively.
They also showed that the 183 urate-associated loci could be used to predict gout risk in an independent group of more than 300,000 people.
The team says these findings may be useful in developing screening tests for gout risk so that patients who are at risk can adopt dietary changes to avoid developing the condition.
The urate-related gene variants and biological pathways uncovered here also should be useful in the search for new ways to treat gout.”
Gout affects more than 8 million people in the U.S. It occurs when urate (also called uric acid) becomes too concentrated in the blood and precipitates into solid crystals, most frequently in the joints.
The crystals trigger episodes of painful inflammation, especially in the big toes.
In the 16th century, gout plagued Henry VIII of England and many other historical figures and was once known as the “disease of kings” because it occurred as a result of diets normally available only to the very wealthy.
Urate is a breakdown product of purine molecules, which are found much more in meat- or shellfish-heavy diets than in vegetarian diets.
Alcoholic beverages, particularly beer, are also high in purine content. Gout has been increasing in prevalence around the world as many countries’ diets have grown richer.
The lead author of the study is Adrienne Tin, Ph.D., assistant scientist in the Department of Epidemiology at the Bloomberg School.
The study is published in Nature Genetics.
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