"Our main goal is to build a resource from which the genes that cause lupus can be discovered," says the head of the study, Dr. John Harley of the Oklahoma Medical Research Foundation, where the registry and repository of blood from the families are being assembled. The National Institute of Arthritis and Musculoskeletal and Skin Diseases, a component of the National Institutes of Health, provided funds for the project.

Doctors don't know what causes systemic lupus erythematosus (SLE, or lupus) but believe it results from a combination of genetic, environmental and hormonal factors. Lupus is called an autoimmune disease because the person's immune system produces antibodies that attack her or his own tissue. Because the disorder can affect many parts of the body--including the joints, skin, kidneys, lungs, heart, nervous system and blood vessels--lupus is called systemic. People with lupus experience times when symptoms are worse (flares) and times when symptoms ease or improve (remissions). Ninety percent of those diagnosed with the disease are women and the disorder often strikes during childbearing years. Black women are three times more likely than white women to develop lupus. The fact that it can run in families suggests that genes are involved, but so far researchers have not been able to gather enough genetic evidence to prove the link. That's where the new Lupus Multiplex Registry and Repository (LMRR) comes in.

The LMRR researchers are collecting blood samples and other information on people with lupus and their families. All who qualify for the study receive a consent form, a questionnaire and collection materials. Samples of their blood are processed and stored in the lupus repository. DNA from these samples will be analyzed for the presence of genetic markers, which could be used to identify possible lupus genes.

"If we can identify a region of a chromosome that is inherited only by those in the family who have the disease, then that region of DNA may contain a gene that is important in lupus," says Dr. Kathy Moser, also at the Oklahoma Medical Research Center, who is overseeing the genetic typing of those who join the study.

By the end of the study period, the scientists hope to have enrolled 125 lupus families. Their samples and the central database created from information on them will be available only to approved researchers studying the disorder. The identity of any of the people who provided the samples and information is kept strictly confidential.

Dr. Moser believes, "This resource will ultimately accelerate our progress toward solving the mysteries of this disease and thus lead to a brighter future for everyone who has lupus." To find out if you and your family members are eligible to take part in these studies, call this toll-free number: 1-888-OK LUPUS (1-888-655-8787).

Recently, Dr. Timothy Behrens and Dr. Grainne Kearns of the University of Minnesota, Minneapolis, began a similar registry--the Sisters with Lupus Research Project--of sibling pairs with SLE. The sibling registry is also funded by NIH. To find out about this study, call this toll free number: 1-800-51-LUPUS (1-800-515-8787).--an NIH HEALTHWise report, November/December 1996