Researchers Discover Lupus Gene

FOR IMMEDIATE RELEASESeptember 20, 2001

Contact: George Carnes, (303) 315-5571

CU Researchers Discover Lupus Gene

Researchers at the University of Colorado Health Sciences Center have made the first identification and description of a gene that increases the risk of systemic lupus erythematosus (lupus). In an article published in the September issue of Immunity, the researchers discuss their generation of a specially bred mouse model to map and study genes that may predispose to the development of lupus in people.

New Zealand mice show features identical to patients with lupus and are considered by many researchers to be an excellent model of the human disease. The CU team isolated chromosome regions from these mice that cause lupus. Molecular studies then implicated interferon-inducible gene, Ifi202, as a likely candidate for a genetic factor that increases the risk of disease.

"Although heredity is key to the development of lupus, many genes are involved and it is a complex process. We believe that this is one piece of the puzzle," said Brian Kotzin, MD, chief of the Division of Clinical Immunology and director of the Autoimmunity Center of Excellence at the CU-Health Sciences Center.

Dr. Kotzin, principal investigator of this lupus study, worked closely with Stephen Rozzo, PhD, assistant professor of immunology at CU, to implicate Ifi202 as the disease gene.

Lupus is an autoimmune disease, where the body's immune system, instead of fighting off infection, begins to attack the body itself. Its name comes from the skin rash that can occur on the face of afflicted individuals. Arthritis also is common with the disease, but lupus frequently attacks internal organs, especially the kidneys, which makes it extremely dangerous. The mouse model was developed to mimic lupus kidney disease.

In the United States, one in 1,000 people develop lupus, 90 percent of whom are women, usually of childbearing age. Current treatments for severe disease include steroids and chemotherapy, which generally suppress the immune system.

"We hope that by identifying the genes and understanding the disease process, specific and less toxic treatments will be possible," Dr. Kotzin said.

The researchers emphasized that their findings are only a first step and that much work needs to be done. There is no genetic test for lupus risk at this time.

There are other genes and also environmental factors that contribute to lupus in people. Dr. Kotzin's team at the CU-Health Sciences Center will continue further research in mice and, eventually, in humans to further delineate the causes of the disease.

The lupus study is partially funded by a grant from the National Institutes of Health and from the Alliance for Lupus Research. This study involved collaborating scientists at Roche Bioscience, University of Geneva, and Stritch School of Medicine.

The University of Colorado Health Sciences Center is one of four campuses in the University of Colorado system. Located in Denver and Aurora, Colorado, the center includes schools of medicine, nursing, pharmacy, and dentistry, a graduate school and two hospitals.

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