9-Year Study Determines Genes Associated with Lupus

Scientists are now closer than ever to a breakthrough in researching the cause behind lupus which in turn, could lead to more investigation into faster, more focused and accurate methods of diagnosing this autoimmune disease. Consequently, this could also lead to the creation more effective treatments.

Systemic lupus erythematosus is a condition in which the immune system strikes up the formation of antibodies that cause inflammation to such a degree that, without proper treatment, organs and tissues are damaged.In other words, the immune system turns on the body itself instead of the outside cause that initiates such a reaction. Moreover, this disease is a very difficult one for doctors to diagnose because its symptoms resemble those of so many other major and minor health conditions.

Details and Discoveries

This groundbreaking study was conducted by the Oklahoma Medical Research Foundation in collaboration with Wake Forest Baptist Medical Center, Genentech Inc., and King’s College of London. Additionally, over a hundred physicians and scientists from laboratories in the U.S., Mexico, Canada, and South America, as well as several European nations, contributed to the effort of gathering samples and analyzing data. Around 27,500 DNA samples from volunteers where utilized.

 The purpose of this nine-year research endeavor was to further explore the concept of possible genetic factors that might be associated with an increased risk of developing SLE. With 16,000 new cases being reported each year, this search has been imperative to figuring out what causes this condition and what can be done more efficiently to diagnose and treat it.

One underlying issue that researchers concentrated on is that, although SLE can affect anyone, mostly women of childbearing age and people of African American, Hispanic, and Native American ethnic backgrounds have been affected at a much higher rate and with more severity. So when results revealed 24 more genes that are linked to the onset of the disease, there was cause for closer scrutiny and of course, an optimistic outlook at the many new directions that this study could lead to. According to one OMRF scientist, Dr. Patrick Gaffney, these findings can help explain why individuals from these particular ethnic backgrounds are affected at such disproportionate rates.Furthermore, these newly identified 24 genes adds to the list of the 65 that are already affirmed to be connected with the onset of SLE. One can only begin to imagine how useful this new information could be in the search for the ideal diagnostic tool and treatment.

Increased Awareness of Possible Causes

One might question to what extent these findings can be applied. While awareness of a strong genetic link is quite helpful, actually identifying those genes and finding out more about the part they play in the onset of SLE, is vital to learning more about diagnosing and treating the disease. Moreover, this finding might signal the eventual arrival in the development of new medications that target the condition itself because doctors will be armed with more specific information on exactly which genes are associated with SLE.

Currently, a wide range of tests are employed to diagnose SLE, but its symptoms mimic a whole other variety of illnesses. Some of the lab tests used to narrow down the possibilities include:

• ANA (antinuclear antibody) panel
• CBC
• Creatinine levels
• Urinalysis
• Cryoglobulins
• CRP and ESR
• Rheumatoid Factor
• Coombs Test

Other tests that are utilized to evaluate the extent of organ damage include

• Chest x-ray
• Kidney biopsy
• Blood tests for kidney and liver function

Not any one particular set of results can be used to diagnose SLE; rather a comprehensive set of these tests and a complete physical must be performed. Subsequently, all results, symptoms, and the patient’s own habits must be carefully considered.  All of this can take week if not months before a definitive answer is reached.

On the other hand, knowing which specific genes relate directly to SLE can possibly cut this wait-time down. If one goes through genetic testing that confirms or negates a predisposition to SLE, similar to the genetic testing for Alzheimers or the test to search for the gene that is connected to breast cancer, then some other conditions can immediately be ruled out.

While the medical community is aware of the possibility that SLE has a tendency to run in families, an exact inheritance pattern, for the most part, remains relatively unclear. In fact, there’s widespread belief that one set of genes might increase one’s risk of developing the disease; while another decreases the one’s chances of developing it. Most individuals, either way, might not ever develop SLE. Nonetheless, this research gives more of a focused direction for the next steps toward battling this disease.

Impact on Treatment in the Future

As of yet, there is no cure for SLE, but depending on the timing of the diagnosis in relation to the progression of symptoms, one can expect to lead a full life. Overall, in more recent years, the outlook is much more optimistic with the availability of treatment and more knowledge of how the disease affects the body.

So far, most treatments address symptoms, inflammation, and prevent (or slow down) damage to the organs or the body’s tissue. The most common and least complex treatments include the following:

• Corticosteroid (topical or injected) for skin irritations and arthritis
• NSAIDS for symptoms related to the joints and muscles or pleurisy
• Hydroxychloroquine and Belimumab

The following medications are prescribed for more severe symptoms:

• Immunosuppressive drugs (only when corticosteroids no longer work)
• Blood thinners since clotting issues can arise from this condition
• Increased dosage of corticosteroids (one resort before incorporating immunosuppressive drugs)

Again, a patient is looking at a broad spectrum of treatment options that depend entirely on the severity and frequency of symptoms along with any damage to organs and tissues. And this does not take into consideration other measures, such as exercise or physical therapy, dietary and other lifestyle changes.

On the other hand, what if prevention was a possibility? According to the President of the Lupus Foundation of America, Sandra C. Raymond, the discovery of these 24 genes, in addition to what is already known about the genetic code associated with SLE, prevention might be a prospect in the future. Not only would the time to diagnose patients be decreased, but also, a sharp reduction of the chances of even developing the condition might be next on the research agenda.

So there is much to be optimistic about in regard to the discovery of the 24 new genes. An extensive international cooperation of physicians and scientists, such as this study, is sure to yield some fascinating—and applicable—results in the future.