Gene associated with lupus identified

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Public release date: 18-Aug-2004

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University of Chicago Press Journals

Gene associated with lupus identified

Researchers at the University of Minnesota have identified, for the first

time, a gene variation associated with systemic lupus erythematosus (SLE), a

complex, inflammatory autoimmune disease that affects multiple organs. The

gene variation, known as PTPN22, is found in approximately 16 percent (or

one in six) of healthy Caucasians in the United States. However, nearly one

in four (or 23 percent) lupus patients carry this variant, which has also

now been associated with risk for type 1 diabetes and rheumatoid arthritis.

The study is published in the September edition of the American Journal of

Human Genetics.

" This appears to be a very important gene for lupus, " said W.

Behrens, M.D., professor of medicine, Medical School, and principal

investigator, " and this is the first time we have identified a variant that

predisposes to many different autoimmune diseases. We hope that this

discovery will lead to the identification of other genes associated with

lupus and other immune disorders. " Behrens believes that dozens of genes may

be responsible for lupus and that discovering the combination of these genes

will be important to developing better diagnosis and treatment of the

disease.

In SLE, a person's immune system begins attacking its own tissues. Organs

commonly targeted in SLE include the skin, kidneys, joints, lungs, and the

central nervous system. The severity of disease and the response to therapy

vary widely between patients, said Behrens, and this leads to significant

challenges in the diagnosis and management of lupus. " If we know which genes

predispose a person to lupus, we may be able to diagnose and treat the

disease earlier, " he said. " In addition to discovering which combination of

genes lead to lupus and other immune diseases, we also hope this information

will help us identify new drugs and therapies. "