Spotlight on Research 2009

August 2009 (historical)

Scientists Identify New Genetic Risk Factor for Rheumatoid Arthritis

Researchers supported by grants from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) have identified a new genetic risk factor for rheumatoid arthritis (RA). Peter K. Gregersen, M.D., head of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute for Medical Research, and his collaborators in the North American Rheumatoid Arthritis Consortium (NARAC), identified a gene dubbed REL as being involved in the signaling pathway that can lead to RA.

"This paper represents the latest in a series of important publications chronicling an exceptionally productive collaboration between extramural and intramural scientists through the North American Rheumatoid Arthritis Consortium," said Daniel Kastner, M.D., Ph.D., clinical director of the NIAMS. "In describing yet another gene in the CD40 signaling pathway that is involved in rheumatoid arthritis susceptibility, this paper reinforces the possibility of targeting this pathway in selected patients with this debilitating illness."

The study analyzed samples from two groups, which included both RA patients and controls. The product of the REL gene plays a key role in the immune system and the RA-associated REL variant is found in about one half of the population of North America. The scientists will continue to study how it increases a person's risk for RA, which occurs in about 1.3 million people in the United States.

The mission of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the Department of Health and Human Services' National Institutes of Health, is to support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases; the training of basic and clinical scientists to carry out this research; and the dissemination of information on research progress in these diseases. For more information about NIAMS, call the information clearinghouse at (301) 495-4484 or (877) 22-NIAMS (free call) or visit the NIAMS Web site at http://www.niams.nih.gov.

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Gregersen PK, Amos CI, Lee AT, Lu Y, Remmers EF, Kastner DL, Seldin MF, Criswell LA, Plenge RM, Holers VM, Mikuls TR, Sokka T, Moreland LW, Bridges SL, Xie G, Begovich AB, Siminovitch KA. REL, encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. Nature Genetics. 2009 June 7; 41: 820-823.