Scientists discovered new protective variants against gout

Gout is a type of arthritis that causes intense joint pain, redness, swelling, and tenderness, usually in the big toe. It occurs due to the buildup of uric acid, which forms sharp crystals in the joints. Recurrent gout attacks can be debilitating, so it is important to seek medical help.
Researchers have been studying the genetic factors that contribute to gout susceptibility. They have identified several genes involved in uric acid levels and metabolism. One gene called URAT1 has been found to play a significant role in gout risk.
The researchers discovered both common and rare variants in the URAT1 gene that provided protection against gout. They found that some of these variants affected the function of the URAT1 protein, which is responsible for uric acid reabsorption.
Interestingly, individuals with these rare variants had lower levels of uric acid in their blood, reducing their risk of developing gout. Even when they had another gene associated with gout, called ABCG2, having the URAT1 variants offered protection.
This study is significant because it reveals new rare genetic variants associated with lower gout risk. Understanding these genetic factors could lead to better treatments and personalised approaches for managing gout in the future.
Overall, this research provides valuable insights into the genetic basis of gout and offers hope for improved prevention and treatment strategies in the future.