Genetic Risk Factor for Rheumatoid Arthritis and Lupus


Genetic Risk. A longtime collaborative research program has identified a genetic variation that increases the risk of two autoimmune diseases: rheumatoid arthritis, or RA, and systemic lupus erythematosus, or lupus. Dr. Elaine Remmers and her colleagues used a large number of DNA samples from people with RA, lupus, or neither disease. They tested variants within 13 specific genes located in a region of chromosome 2 associated with RA to see if these genetic variations appeared in any of the samples. Among the variants they examined, the researchers found several genetic differences in a gene, known as STAT4. STAT4 is important because it encodes a protein that plays a role in the regulation and activation of certain cells of the immune system. The investigators learned that one variant form of the gene was present much more often in samples from RA patients compared with people without RA. The scientists replicated that result in two independent collections of RA cases and controls. The researchers also found that the same variant of the STAT4 gene was even more strongly linked with lupus in three independent collections from patients and people without lupus. The results suggest that people who carry two copies of the form of the STAT4 gene associated with disease have a 60-percent increased risk for RA and more than double the risk for lupus compared with people who carry no copies of that form of the gene. The research also suggests a shared disease pathway for RA and lupus. The success of the study can be attributed in part to the productive, longstanding collaboration between NIAMS intramural researchers and other scientists that the Institute supports around the country. For more information, please visit our Web site at www.niams.nih.gov.

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