Genes Reveal

It has long been debated whether or not rheumatoid arthritis (RA) has a true genetic component and if there is a way to predict who will get the disease or how badly it will affect them.

Now, a new study concludes that certain genetic factors may play a role in predicting who will develop RA. A patient’s genes may also show the severity of disease they will develop. This could play a role in forecasting a person’s prognosis. 


According to the study published in the April 28 issue of The Journal of the American Medical Association (JAMA), advances have been made in determining the link between certain genetic variations in a patient and the development of RA, as well as their responsiveness to RA treatment and the possibility of death from rheumatoid arthritis.

Genetics and RA: What Does the Study Show?

Progress has been made in identifying how big a role genetics play in autoimmune diseases like RA. How much this development relates to treatment and prognosis is still unclear, but researchers indicate the latest discovery may provide an opportunity in RA research. 

Anne Barton, Ph.D., who is a fellow of the Royal College of Physicians, led the study with her colleagues from the University of Manchester, England. They noted that replication of these findings will be necessary to catapult the findings from theory to practice. 

The researchers studied data from several sources that looked at 2,112 patients to evaluate radiologic severity, 2,432 patients to assess mortality, and 1,846 patients to examine treatment response to TNF inhibitor therapy. All patients were from the United Kingdom. 

With the information, the researchers determined the gene HLA-DRB1 was associated with severity of rheumatoid arthritis as well as treatment response. 

In a published editorial accompanying the study, David T. Felson, M.D., M.P.H., of the Boston University School of Medicine, and Lars Klareskog, M.D., Ph.D., of the Karolinska Institutet/Karolinska University Hospital, Stockholm, wrote there are three important conclusions to draw from the story. 

The first is the findings may add to the ability to predict outcomes of RA and help optimize therapeutic strategies for different patients. 

The second is the research may add to the understanding of the molecular mechanisms that determine disease course and mortality.

The third is the findings can help in understanding disease pathogenesis. 

Researchers noted that the study may not have an immediate implication on the clinical level, but the identification of these genetic susceptibilities is of great interest to the rheumatology community.