Oklahoma Medical Research Foundation scientist Patrick Gaffney, M.D.

In a new research study, scientists from the Oklahoma Medical Research Foundation have helped identify more than 1,000 genetic variants that may play a role in whether a person develops the autoimmune disease lupus.
Going forward, these new findings could play a key role in tailoring treatments for individuals who suffer from or are at an increased risk for lupus, a disease in which the immune system becomes unbalanced and attacks the body’s own tissues. Lupus can result in damage to the joints, skin, kidneys, heart and lungs.
In the new study, scientists analyzed biological samples donated by 1,700 lupus patients. “The patient contributions—DNA and blood samples—are vitally important to our work,” said Patrick Gaffney, M.D., who holds the J.G. Puterbaugh Chair in Medical Research at OMRF and was one of the two senior authors of the paper. “Without them, we couldn’t do any of these genetic studies.
Working with scientists at the University of Texas Southwestern Medical Center, the University of Southern California, the University of California, Los Angeles, and the Université Catholique de Louvain in Belgium, the researchers specifically identified 1,206 DNA variations in 16 different regions of the human genome with ties to increased risk of developing lupus.
“This study gave us more precise information about these variants and how they influence the immune response,” said Gaffney, who is a member of OMRF’s Arthritis and Clinical Immunology Research Program. “It could someday allow us to look at individuals and the kind of variants they carry and make predictions about who’s going to have a higher risk of developing lupus.”
More than 16,000 people are diagnosed with lupus in the U.S. each year. According to the Lupus Foundation of America, the disease affects as many as 1.5 million Americans and 5 million people worldwide.
The results of the study, which was published in the scientific journal eLife, may also help scientists better understand other autoimmune diseases, conditions in which the body also mistakenly attacks its own tissues. Those diseases include multiple sclerosis, rheumatoid arthritis, Sjögren’s syndrome and Type 1 diabetes.
Other OMRF scientists who participated in the project include Judith James, M.D., Ph.D., Swapan Nath, Ph.D., Graham Wiley, Ph.D., and Jennifer Kelly.
Funding for this research was provided by grant RC2AR058959 from the National Institute of Autoimmune, Musculoskeletal and Skin Diseases, a part of the National Institutes of Health.