Link Between Rheumatoid Arthritis and Huntington Disease Discovered

Epigenomic testing is a novel approach that may lead to a greater understanding of many diseases. In a study published in

Nature Communications

, Ai et al use the EpiSig, an analytic tool used to detect epigenetic changes, to map out the epigenomic landscape of rheumatoid arthritis (RA) in hopes of discovering new therapeutic pathways and targets.

Despite current pharmacologic therapies designed to manage RA—a chronic inflammatory disorder that causes synovial inflammation and swelling of joints—a percentage of patients remain unresponsive and progress to disability. An area of growing interest among scientists is epigenomic testing. By mapping out the epigenomic landscape of RA, scientists hope to gain insight on disease origins as well as new cell signaling pathways.

In their study, Ai et al mapped out the epigenomic profiles of RA and osteoarthritis (OA) for the first time to provide insight on RA-specific pathways and transcription factor motifs.

The EpiSig was used to analyze diverse epigenomic data presented from RA and OA patient samples. Histone modifications, whole-genome bisulfite sequencing, RNA sequencing, and transposase-accessible chromatin with high-throughput sequencing were all integrated to define the epigenomic landscape of RA. When comparing the epigenetic marking of RA and OA samples, a total of 31,969 differently modified epigenetic regions (DMER) were found across 125 clusters. Three-hundred and thirty-nine differently expressed genes were also identified between the 2 conditions, with 124 genes overexpressed and 215 genes underexpressed in RA relative to OA.

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