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."

umn/

The March of Dimes provided funding to Eduardo E. Castilla, M.D., Ph.D., Professor at ECLAMC, a genetic resource facility in Brazil, as well as to a collaboration between Andrew Lidral, D.D.S., Ph.D., Associate Professor, Department of Orthodontics, University of Iowa, Iowa City, and Mauricio Arcos-Burgos, M.D., Ph.D., at the University of Antioquia, Medellin, Colombia.

Cleft lip (with and without cleft palate) occurs in about 1 in every 1,000 births in the U.S., or more than 4,000 babies each year. A cleft is an opening or separation in a body structure. Clefts that occur in the oral-facial region often involve the upper lip, the roof of the mouth (hard palate), or the soft tissue in the back of the mouth (soft palate). More than 70 percent of babies with cleft lip also have cleft palate.

Children with oral clefts experience difficulties in chewing, swallowing, and speaking, and are prone to frequent ear infections that can lead to hearing loss. Depending on the severity of the cleft, dental problems may also occur. Surgical repair is an important part of treatment for oral clefts, but is not a complete solution for many children.

Isolated clefts are associated with an overall lifetime increase in the risk of premature death from all causes, according to a recent long-term followup study.

modimes/