Using Genes to Predict Rheumatoid Arthritis Risk

September 6, 2016

Drs. I-Cheng Ho and Hui-Hsin Chang of Brigham and Women’s Hospital recently published a paper in Arthritis & Rheumatology on the results of a study they completed using samples from the Partners Biobank. This study investigated the relationship between a variation in a gene and the risk for the development of rheumatoid arthritis (RA). Drs. Ho and Chang found that the variation in this gene leads to increased activity of immune cells, which can cause the inflammation characteristic of RA.

Rheumatoid arthritis (RA) is an autoimmune disease that can lead to inflammation in the joints and other organs of the body. According to the Center for Disease Control and Prevention, this potentially debilitating disease is estimated to affect about 1.5 million adults in the US. Treatments for RA have evolved greatly in the last decades, but there is still much progress to be made. Current research is looking to understand why certain people are predisposed to develop this disease and to use this information to prescribe more targeted treatments. 

Drs. I-Cheng Ho and Hui-Hsin Chang of Brigham and Women’s Hospital recently published a paper in Arthritis & Rheumatology which tackles this research area. Using samples from the Partners Biobank, Drs. Ho and Chang investigated the relationship between a variation in a gene and the risk for the development of RA. The variation, or polymorphism, occurred in genes that code for the enzyme (PTPN22), which plays a part in the activation of immune cells. The variation in the genes for the PTPN22 enzyme leads to increased activity of immune cells, which can cause the inflammation characteristic of RA.

The patients used for this research project were found using the Partners Biobank. They carried one copy of the gene variation studied but did not present symptoms of RA. Still, these patients’ samples had higher levels of immune response when compared to the samples without the variation. This shows that this polymorphism can be a potential predictive factor for the development of RA. Having the samples in the Biobank was an important part of the success of this research. According to Drs. Ho and Chang, the frequency of this polymorphism is low, so finding samples to study can be difficult. Having patients’ genetic information available made this study possible by providing samples of donors that carry this genetic variation.

The polymorphism in PTPN22 is also associated with high risk of development of other autoimmune disorders, including lupus and type 1 diabetes, even though the features of these diseases are quite different. Understanding how this genetic variation plays a part in the development of autoimmune diseases could potentially help attenuate symptoms by allowing for early intervention and close monitoring of high risk patients.

Current treatments for RA include the chemotherapy drug methotrexate and biopharmaceuticals. Unfortunately, it is still not possible to predict which treatments are likely to give the best response to each individual. Patients can present varying outcomes on the same drug. In his future research, Drs. Ho and Chang are hoping to identify biomarkers that could allow for more targeted and personalized treatments, increasing the likelihood of positive outcomes for patients.  

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