Researchers identify new genetic signature for sarcoidosis

Researchers at the University of Illinois Hospital & Health Sciences System have identified a genetic signature that distinguishes patients with complicated sarcoidosis, an inflammatory lung disease that can be fatal, from patients with a more benign form of the disease. The gene signature could become the basis for a simple blood test.

Their findings are reported online in the journal PLOS ONE.

In sarcoidosis, tiny clumps of abnormal tissue form in organs of the body. These clusters of immune cells, called granulomas, cause inflammation. Sarcoidosis can occur in the lymph nodes, liver, eyes, skin or other tissues, but almost always also in the lungs. The cause of the disease is unknown. African Americans are at higher risk for the disease and for more severe cases.

"One of the perplexing aspects of this disease is that two thirds of the people who get sarcoidosis get better with only minimal therapy," says Dr. Joe G.N. "Skip" Garcia, vice president for health affairs at the University of Illinois and principle investigator on the study.

But one third of patients go on to develop complicated sarcoidosis -- neurologic sarcoidosis, cardiac sarcoidosis and progressive lung disease, Garcia said. Complicated sarcoidosis can leave patients with lung damage, and in a small percentage of cases the disease can be fatal.

The challenge, Garcia says, is that there is no difference in the clinical presentation between patients with simple sarcoidosis and those who will go on to develop more serious disease.

The researchers took blood from patients with simple and complicated sarcoidosis as well as patients without the disease to look for a pattern of gene expression unique to complicated sarcoidosis.

They were able to identify a distinct 20-gene pattern of gene expression that could reliably identify those most likely to progress to complicated sarcoidosis.

A 31-gene expression signature had been identified previously, but a smaller panel of genes makes the new test less expensive and more useful clinically, said Garcia.

"We are dedicated to looking for new insights as well as new therapies for sarcoidosis and hope to someday be able to identify people at risk for it ahead of time," Garcia said.

UI Health has partnered with the Bernie Mac Foundation to form the Bernie Mac Star Clinic for Sarcoidosis, where the researchers hope to further validate use of the genetic signature.

They hope the genetic signature could someday be the basis for a biochip that could identify patients most likely to progress to life-threatening disease.


  1. maria Romano Trampe maria Romano Trampe United States says:

    Is there a test we can request to determine if we have the gene sequencing? I have sarcoidosis and would like to know.

  2. Kristen Hartzell Kristen Hartzell United States says:

    My grandmother was diagnosed with sacoidosis in June 2012 died from complications August 2012. Although we suspect she had the disease since 1997. No one seemed to care during the last few months of her life. Told her she was crazy and all of it was in her head. Doctors need to learn more about this disease before they write it off.

  3. Jeanne Fershleiser Jeanne Fershleiser United States says:

    It seems to me that this research just about duplicates and confirms the research that Dr. Laura Koth did at UCSF about a year ago. Are you aware of her work? Is she aware of your work? Are you both part of the GRADS project?

    Oh I have sarocidosis and am a subject of Dr. Koth's studies.

  4. Tina Daughenbaugh Tina Daughenbaugh United States says:

    My mother was diagnosed with neurosarcoidosis in January of 2012, we lost her in August of 2012. Her problems originally started in 2000. Since 2000, she had a brain biopsy twice, a lung biopsy,i lost track of the number of lumbar punctures, numerous blood tests,radition, steroids, and several months of physical therapy. How wonderful it would have been,if back in 2000 she may have been able to be diagnosed at that point, instead of so many years later. Perhaps,it would have cut down on the amount of other painful tests. And perhaps her treatment would have been different and we would have had her with us longer. The last couple months of her life, the doctors just gave up and told me to try and keep her comfortable. It was heart wrenching to see my mother go from an active woman that cut her own firewood, to someone that i had to feed and change. I'm so thankful for the research that is being done, and I pray every day that it will continue, and that they continue to make progress.

  5. cynthia mcgill cynthia mcgill United States says:

    All of this is fine but what about a CURE.  I've been suffering with this disease for 3 years and all my doctor can do is treat the ailments, which is not good because my body has gotten use to the drugs.  HELP HELP HELP

  6. Fat Rasputin Fat Rasputin United States says:

    Anyone out there with sarcoidosis know of any other links or sites?  Thanks!

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
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