In a recent study, researchers found a genetic variant that may help understand why some people are at risk of gout.
The research was conducted by a team from the University of Otago.
Previous studies have shown that gout is a painful and debilitating arthritic disease.
The condition is caused by persistently elevated levels of urate in the blood.
The symptoms include severe joint pain and swelling, especially in peoples’ toes, knees, elbows, wrists, and fingers.
In the current study, the team examined genetic factors involved in the disease.
They found a genetic variant that lies not inside, but just next to a gene called PDZK1.
PDZK1 protein helps excrete urate through the kidney and gut. In this way, PDZK1 can control the amount of serum urate. A high amount of urate could form crystals that cause gout.
The researchers found the genetic variant doesn’t affect the PDZK1 protein. Instead, it causes a change in the amount of the PDZK1 gene produced.
They also found that the effect of the genetic variant in humans is in the gut as well as the kidney.
The findings identified a new molecular pathway for gout. They enable new understanding of why there is high gout risk in people with this particular genetic variant.
The researchers suggest there are dozens of regions in the human genome with signals that increase urate levels and risk of gout and kidney disease.
Understanding how genetic variation contributes to people’s risk of gout or kidney disease can clarify the choice of treatment for patients.
The study results may allow new personalized medicine in gout and kidney disease treatment.
The study is published in Human Molecular Genetics. It was funded by the Health Research Council of New Zealand.
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