According to a study published in Scientific Reports, cells from a cheek swab indicated biomarkers for rheumatoid arthritis, which could lead to an approach to detect and begin treatment before the disease begins.

Researchers from Washington State University and Arthritis Northwest in Spokane, Washington discovered a group of epimutations in cells from women with rheumatoid arthritis that differed from those without the joint-damaging inflammatory disease. Epimutations are molecular factors and processes that occur in the vicinity of DNA and influence genome function independently of DNA sequence.

According to Michael Skinner, the paper’s senior author, the discovery could advance treatment for rheumatoid arthritis.

“If we can identify these patients ten years earlier before the disease develops, it opens up a whole arena of preventative medicine that we did not have access to before,” says Skinner, a professor in WSU’s School of Biological Sciences.

Rheumatoid arthritis affects around 200,000 individuals in the United States each year, with women being more affected than men. While prescribed drug treatments have poor success in many individuals who have already developed the disease, certain studies have demonstrated that treatments initiated in the early stages of the disease can result in symptom remission.

Skinner believes that having biomarkers will allow treatment to begin even before the first symptoms appear.

Researchers used a swab to collect buccal, or cheek, cells from two groups of women for the study: 26 Caucasian women from Spokane and 23 African-American women from Los Angeles. About half of the women in each group developed rheumatoid arthritis, with the other half serving as a control.

Buccal cells, while being collected from the cheek, allowed the researchers to conduct an epigenome-wide investigation. An epigenome, which literally means “above” the genome, is made up of chemical substances that can modify the genome and influence its function. While epimutations are not part of DNA, they can nonetheless be handed down to future generations.

In this study, the researchers discovered epimutations in locations known as DNA methylation sites in women with rheumatoid arthritis from both groups. The purpose of the study was to investigate if there were any variations between racial groupings, as African Americans have showed indicators of an increasing prevalence of rheumatoid arthritis. Despite minor variances, the researchers discovered a large overlap in epimutations among women with rheumatoid arthritis of both ethnicities, indicating that the detected biomarkers are a powerful signal for the disease.

“Surprisingly, most of the DNA methylation sites we found that were consistent among patients with the disease were associated with genes previously known to be involved in rheumatoid arthritis,” adds Skinner.

The findings add to the evidence that the condition is likely systemic, according to Skinner, because it was discovered not just in immune system cells implicated in the development of rheumatoid arthritis, but also in many other cells across the body.

The researchers also evaluated an immune-related monocyte cell type in blood samples from some of the women, but the epimutations were also found in the buccal cells, indicating that a relatively non-invasive diagnostic cheek swab test for the disease may be established.

Source: 10.1038/s41598-021-03170-6

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