New Risk Gene For Rheumatoid Arthritis And Lupus

Scientists at The Feinstein Institute for Medical Researchhave identified a critical gene that increases a person’s risk for rheumatoid arthritis and systemic lupus erythematosus, and may be involved with other autoimmune diseases. Genetic mapping enabled them to identify STAT4 located on chromosome 2 as a culprit in susceptibility to both diseases.

Peter K. Gregersen, MD, head of The Feinstein Institute’s Robert S. Boas Center for Genomics & Human Genetics says “About 22 percent of people in the United States inherit this particular form of STAT4. Having this variant of STAT4 confers a 30 percent increased risk for developing rheumatoid arthritis. People with two copies of STAT4 have a 60 percent increased risk, Dr. Gregersen said. Rheumatoid arthritis is a painful inflammatory condition of the joints. It is an autoimmune disease, which means the body’s immune system recognizes a product in the lining of the joint as foreign and wages an attack. Patients with lupus, also an autoimmune disease, have about double the risk compared to people without this variant of STAT4. Identifying this risk gene is important because it points us in the right direction”.

One percent of people will develop rheumatoid arthritis. There are probably dozens of genes, perhaps more, involved in triggering complex diseases like rheumatoid arthritis. Other risk factor genes for auto-immune diseases include TRAF1-C5 and PTPN22.

The discovery of STAT4 can ultimately help scientists unravel the triggers for the disease, help in the development of a test to confirm a diagnosis and perhaps even help predict who will respond to treatments.

Penny Harrington

b5 media Genetics and Health correspondent