Cells from a cheek swab may serve as biomarkers for female rheumatoid arthritis

In a recent study published in Scientific Reports, a group of researchers from Washington State University and Arthritis Northwest have suggested that epimutations in buccal and monocyte cells may serve as RA biomarkers in female patients.

Genetics has been suggested to play a role in rheumatoid arthritis (RA) etiology. Several studies have reported gene associations linked to numerous cellular and immune-related pathways. Genome-wide association studies have also identified hundreds of single-nucleotide polymorphisms linked to RA, which are speculated to impact various biological processes.

The current study group used purified blood monocytes and buccal cells obtained from two different clinical cohorts of Caucasian or African American female populations with or without arthritis. An Epigenome-wide association study was carried out to identify the differential DNA methylation regions (DMR) in both control and RA groups.

The researchers have noted distinct DMRs (epimutations) in the buccal cells and monocytes in RA patients. The study has highlighted the feasibility of RA susceptibility epigenetic diagnosis and its potential in improving the clinical management of RA and in developing newer preventative strategies.

Clinical trials involving larger RA cohorts are needed to corroborate the association between DMRs and RA. If these expanded trials also identify RA susceptibility epimutations in patients without the onset of RA, it could pave the way for preventative therapeutic strategies to delay or prevent the onset of RA.

Reference: Craig, G., Kenney, H., Nilsson, E.E. et al. Epigenome association study for DNA methylation biomarkers in buccal and monocyte cells for female rheumatoid arthritis. Sci Rep 11, 23789 (2021).