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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 Timothy 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."
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