Blood (and other body tissue) clues that can signal an impending flare-up of lupus activity are called “lupus biomarkers.” Researchers have already found that as a result of interferon activation, the blood of lupus patients contains certain proteins at unusual levels.
Established lupus investigator Dr. Timothy W. Behrens co-directed the project that simultaneously measured the levels of hundreds of proteins and analyzed genetic (DNA) samples from nearly 1,700 people with lupus and more than 2,500 healthy people from the United States, Spain, Sweden, and Argentina.
The team identified a slew of proteins that are increased in the blood of lupus patients.
With his LRI grant, Behrens looked at over 1,500 blood samples taken from 300 people with lupus over the period of a year, to determine which of the proteins signal active disease and which predict future flares.
Discovery: Gene Variation Discovered in People with Lupus
With LRI funding, he and his team were successful in linking a single genetic variation to lupus, providing critical clues to the origin of the disease.
The discovery, published in April 2006 in the online scientific journal Nature Genetics, reveals that most of the people with lupus in the study have a mutational difference in a specific gene known as interferon regulatory factor 4 (IRF5).
“These data confirm the association of IRF5 with SLE,” the authors write, adding that the results provide new insight into the cause and development of this often devastating chronic disease, and should generate more research on the genetic basis for it.
Dr. Behrens subsequently took a position at Genentech, and his research work was taken over by Emily Baechler Gillespie, Ph.D., an assistant professor of medicine at the University of Minnesota and a member of the Autoimmunity Program of the Center for Immunology, and the University’s Institute of Human Genetics.
Read about Dr. Baechler Gillespie's work
Elevated Serum Levels of Interferon-Regulated Chemokines Are Biomarkers for Active Human Systemic Lupus Erythematosus. PLoS Med. 2006 Dec 19;3(12):e491. Bauer JW, Baechler EC, Petri M, Batliwalla FM, Crawford D, Ortmann WA, Espe KJ, Li W, Patel DD, Gregersen PK, Behrens TW.