Gene variant linked to prognosis in inflammatory diseases

Credit: Nephron

(Medical Xpress)—Researchers have identified a gene that is linked to long term disease outcome in Crohn's disease, a common inflammatory bowel disorder, and rheumatoid arthritis. The findings reveal targets that could be exploited for new treatments.

The gene, which is involved in inflammation, is not associated with the overall risk of developing disease but with one particular variant experienced better clinical outcomes.

Genetic studies have contributed huge advances to our understanding of susceptibility to complex diseases and the biological processes that drive the development of disease. However, understanding the factors that shape the course a disease takes once it has developed is equally important for ensuring patients have access to appropriate treatments.

The international team, led by researchers at the Cambridge Institute for Medical Research at the University of Cambridge, looked at existing data from genome-wide association studies in Crohn's disease to focus on prognosis rather than diagnosis. They identified a variant in the FOXO3A gene that is associated with the outcome of Crohn's disease, but which was not associated with its diagnosis.

By studying the effects of this particular on cells cultured in the lab, they found that it blocks the production of inflammatory chemicals, known as cytokines, that are known to be responsible for aggravating disease symptoms in Crohn's disease and other inflammatory diseases.

When the team looked at patients with another inflammatory disease, rheumatoid arthritis, they found that the same gene variant was linked with less joint damage over time, but not with susceptibility to developing the disease in the first place.

The study also looked at patients with malaria in Kenya and Vietnam, a disease where inflammatory cytokines have a positive rather than negative impact on disease outcome and are an important part of the immune response to the initial infection. The findings reveal that the same gene variant is linked with a greater to severe malaria.

Professor Ken Smith from the Cambridge Institute for Medical Research and lead author of the study said: "Our findings have important implications for how we think about the biology of complex disease, and in particular show that genetic variants might control pathways that drive the clinical outcome of disease without being associated with its diagnosis. These pathways, which may influence multiple diseases, may provide new targets for therapy to alter course."

The study is published online in the journal Cell.

Related Stories

Host genome controls skin microbiota and inflammation

Sep 18, 2013

Numerous recent studies linked gut microbiota with various diseases such as obesity or diabetes. Little is known, however, on how gut and skin microbiota composition is controlled. In a recent study published in the journal ...

Gene link to multiple sclerosis

Jul 11, 2012

(Medical Xpress) -- The biological role of a gene variant implicated in multiple sclerosis (MS) has been determined by researchers at Oxford University.

Recommended for you

Throwing a loop to silence gene expression

12 hours ago

All human cells contain essentially the same DNA sequence – their genetic information. How is it possible that shapes and functions of cells in the different parts of the body are so different? While every cell's DNA contains ...

A nucleotide change could initiate fragile X syndrome

Sep 01, 2014

Researchers reveal how the alteration of a single nucleotide—the basic building block of DNA—could initiate fragile X syndrome, the most common inherited form of intellectual disability. The study appears ...

Gene clues to glaucoma risk

Aug 31, 2014

Scientists on Sunday said they had identified six genetic variants linked to glaucoma, a discovery that should help earlier diagnosis and better treatment for this often-debilitating eye disease.

User comments