Three newly confirmed lupus genes are providing new clues into this devastating autoimmune disorder.

An article published in the April 6, 2012, issue of the American Journal of Human Genetics described three lupus genes discovered by scientists from Oklahoma Medical Research Foundation (OMRF; Oklahoma City, OK, USA). The massive international collaboration included universities and research facilities in Granada (Spain), Taipei (Taiwan), Seoul (republic of Korea), Bogota (Colombia), and across the United States, OMRF scientists collected more than 17,000 samples for large-scale genetic testing.

The project, which started in 2009, took one year to gather the samples and another year to run the genetic tests. Since then, the researchers have studied the data, according to lead author and OMRF scientist Christopher Lessard, PhD “We have pinned down three new genes that show statistical significance for lupus risk,” he said. “We’ve also turned up another 11 regions we think might be related to lupus, but those need more study.”

The study is significant for its inclusion of several ethnic groups and findings that show that the genes that cause lupus are not always universal, according to OMRF researcher Patrick Gaffney, MD Utilizing samples from a wide range of ethnic backgrounds, scientists found the genes IRF8 and TMEM39a were associated with lupus in European-American, African-American, Gullah, and Asian patients. A third gene named IKZF3 was only significant in African-American and European-American samples.

The huge undertaking has already revealed other discoveries, according to Dr. Gaffney. Up to now, the project has culminated in at least 15 published articles and several more are in the pipeline. The next step will be studying the genes to find out what role they play in lupus, according to Dr. Lessard.

“Identifying and characterizing these genetic risk factors in lupus will undoubtedly lead to improved diagnostics and therapeutics for this complex disease," said senior author and OMRF scientist Kathy Moser, PhD.

Lupus Foundation of America, Oklahoma chapter executive director Mannix Barnes noted that the finding marks another significant step for patients. “The importance of continued research for lupus is imperative to finding the cause and treatments for a disease that affects over 1.5 million Americans, mostly women,” said Dr. Barnes. “I can honestly say from an executive viewpoint in an organization that fields thousands of calls annually from women affected by this disease, I hope research one day will be able to put us out of business and start saving lives in return.”

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Oklahoma Medical Research Foundation