Scientists Discover New Lupus Genes

Lupus risk in different ethnic groups marked by three genes

(RxWiki News) A crucial part of treating disease is knowing what causes disease. Sometimes, environmental factors cause disease. In other cases, it is genetic, as shown by the recent discovery of three new lupus genes.

Scientists have identified three different genes associated with an increased risk of lupus.

With more research, these findings could make it easier in the future for doctors to spot at-risk patients and start early treatment.

"Get tested if you think you are at risk for lupus."

"We have pinned down three new genes that show statistical significance for lupus risk," says Christopher Lessard, Ph.D., a scientist at the Oklahoma Medical Research Foundation (OMRF) and lead author of the study.

"We've also turned up 11 regions we think might be related to lupus, but those need more study," he adds.

For their study, Dr. Lessard and colleagues collected over 17,000 genetic samples for testing.

They found that the genes IRF8, TMEM39a, and IKZF3 were markers for an increased risk of lupus - a painful disease in which the body's immune system mistakenly attacks its own healthy cells, causing joint pain and swelling.

The presence of any of these genes, however, is not a sign of lupus risk for everyone. Each gene only poses a risk to different ethnic groups.

"The study included a variety of ethnic groups, and the results show the genes that cause lupus aren't always universal," says Patrick Gaffney, M.D., also of OMRF and one of the study's co-authors.

The results show that the IRF8 and TMEM39a genes are associated with lupus in European-American, African-American, Gullah (a distinct group of African-Americans in South Carolina and Georgia), and Asian patients.

The IKZF3 gene, on the other hand, marked lupus risk only in African-Americans and European-Americans.

According to Dr. Lessard, these findings pave the way for future research that should look at how these genes lead to lupus. Understanding their role in the development of lupus could be key to improving diagnosis and treatment.

Senior author and OMRF scientist Kathy Moser, Ph.D., says, "Identifying and characterizing these genetic risk factors in lupus will undoubtedly lead to improved diagnostics and therapeutics for this complex disease."

This international research effort - which included institutions in Spain, Taiwan, Korea, Colombia, and the United States - was funded by grants from the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Institute of Allergy and Infectious Diseases, the National Center for Research Resources, the Lupus Research Institute, the Alliance for Lupus Research, the Korean Healthcare Technology R&D Project, the Arthritis National Research Foundation Eng Tan Scholar Award, the Arthritis Foundation, the Swedish Research Council, the Swedish Association Against Rheumatism, the Fundacion Instituto de Salud Carlos III, the Wenner Gren Foundation, Arthritis Research UK, the Wellcome Trust, Kirkland Scholar Award, Wake Forest University Health Sciences Center for Public Health Genomics, the European Science Foundation, and the Federico Wilhelm Agricola Foundation.

The study is published in The American Journal of Human Genetics.

Reviewed by: 
Review Date: 
April 11, 2012