Researchers at the University of Edinburgh have identified a genetic link that could revolutionise rheumatoid arthritis treatment. This discovery opens doors to innovative drug development and better patient outcomes, potentially improving the quality of life for hundreds of thousands of patients worldwide
A groundbreaking study led by scientists at the University of Edinburgh has identified a crucial genetic factor associated with rheumatoid arthritis, offering new hope for millions affected by the autoimmune condition. By pinpointing how a particular gene influences inflammation, researchers believe this discovery could lead to the development of more targeted and effective treatments, potentially transforming the way rheumatoid arthritis is managed in the future and inspiring the medical community to continue their efforts in this field.
Discovering 16 genes associated with rheumatoid arthritis
Rheumatoid arthritis is a chronic autoimmune disease in which the immune system mistakenly attacks the body’s joints, resulting in pain, swelling, and stiffness. It typically affects joints on both sides of the body, such as hands, wrists, and knees, and can also impact internal organs.
The researchers analysed genetic data from 450,000 individuals in the UK Biobank and employed a novel approach to aggregate the minor effects of hundreds of common mutations on each gene. The primary core gene they identified produces an immune checkpoint called programmed death protein 1 (PD-1).
Drugs that target the protein to prevent the immune system’s overreaction have shown effectiveness in treating rheumatoid arthritis in recent trials. However, these drugs are not yet licensed for use in patients.
The research team will now investigate whether the activity of these core genes can inform treatment decisions for individuals with the disease. Their work could pave the way for personalised therapies that better address each patient’s unique genetic profile.
The researchers found 16 genes associated with the painful condition, with six in particular producing proteins known as immune checkpoints. These immune checkpoints play a crucial role in regulating the immune system. When these proteins malfunction, the immune system can overreact and attack the body’s cells, leading to the symptoms of rheumatoid arthritis.
Experts say that targeting the checkpoints with drugs could significantly improve the treatment of rheumatoid arthritis, potentially leading to a cure for this disease, which causes pain, swelling and stiffness in joints for 400,000 people in the UK.
Reshaping knowledge of arthritis
Previous genetic studies have revealed specific differences in the DNA of individuals with or without the condition; however, studying genes near these mutations has not yielded new treatments.
Recently, scientists proposed that small changes in many genes can combine to affect a few core genes linked to the disease directly. Experts say this helps explain why genes found in earlier studies are not the best drug targets, as they affect the main genes but do not directly cause the disease.
“This work reshapes our understanding of the causes of rheumatoid arthritis. We expect drugs that target the causes of the disease to be more effective than the current drugs, which only target inflammation. We’re encouraged by the promising results of trials of drugs that target PD-1 in rheumatoid arthritis. Our research can help identify which other autoimmune diseases these drugs are likely to be effective in,” commented Professor Paul McKeigue, Professor of Genetic Epidemiology and Statistical Genetics.
