New gene test flags risk of serious complications in sarcoidosis

October 12, 2012

(Medical Xpress)—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 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- 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 could someday be the basis for a biochip that could identify patients most likely to progress to life-threatening disease.

Explore further: Biosignatures distinguish between tuberculosis and sarcoidosis

Related Stories

Biosignatures distinguish between tuberculosis and sarcoidosis

May 7, 2012
With a range of diseases, doctors need unique features which they can use to unequivocally identify a patient's illness for an appropriate diagnosis. Scientists therefore search for the biomarkers for an illness or a combination ...

Study reveals sarcoidosis-related mortality rates among black women

May 22, 2012
A new study conducted by researchers from Boston University has found that sarcoidosis accounts for 25 percent of all deaths among women in the Black Women's Health Study who have the disease. The study is the largest epidemiologic ...

Recommended for you

Clear link between heavy vitamin B intake and lung cancer

August 22, 2017
New research suggests long-term, high-dose supplementation with vitamins B6 and B12—long touted by the vitamin industry for increasing energy and improving metabolism—is associated with a two- to four-fold increased lung ...

Study provides insight into link between two rare tumor syndromes

August 22, 2017
UCLA researchers have discovered that timing is everything when it comes to preventing a specific gene mutation in mice from developing rare and fast-growing cancerous tumors, which also affects young children. This mutation ...

Retaining one normal BRCA gene in breast, ovarian cancers influences patient survival

August 22, 2017
Determining which cancer patients are likely to be resistant to initial treatment is a major research effort of oncologists and laboratory scientists. Now, ascertaining who might fall into that category may become a little ...

Study identifies miR122 target sites in liver cancer and links a gene to patient survival

August 22, 2017
A new study of a molecule that regulates liver-cell metabolism and suppresses liver-cancer development shows that the molecule interacts with thousands of genes in liver cells, and that when levels of the molecule go down, ...

Zebrafish larvae could be used as 'avatars' to optimize personalized treatment of cancer

August 21, 2017
Portuguese scientists have for the first time shown that the larvae of a tiny fish could one day become the preferred model for predicting, in advance, the response of human malignant tumors to the various therapeutic drugs ...

Scientists discover vitamin C regulates stem cell function, curbs leukemia development

August 21, 2017
Not much is known about stem cell metabolism, but a new study from the Children's Medical Center Research Institute at UT Southwestern (CRI) has found that stem cells take up unusually high levels of vitamin C, which then ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.