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Probing the genetics of autoimmunity

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Although genome-wide association studies have identified numerous genetic variants that increase autoimmune disease risk, many of the variants are not in protein-coding genes, making it difficult to understand their function.

Thomas Aune, Ph.D., and colleagues performed whole genome RNA-sequencing on blood samples from patients with autoimmune diseases and categorized mRNAs (protein-coding messenger RNAs) and long non-coding RNAs (lncRNAs).

The investigators identified both known and novel lncRNAs that were differentially expressed in patients with autoimmune diseases compared to control patients. They found that the lncRNAs were not randomly distributed across the genome but rather co-localized with immune cell enhancers and super-enhancers – regions of DNA that regulate gene expression. The lncRNAs were also located near genetic variants that have previously been associated with autoimmune disease risk.

The researchers propose in the July issue of the Journal of Autoimmunity that altered lncRNA expression and enhancer function contribute to autoimmune disease risk and pathogenesis and may represent attractive therapeutic targets.

This research was supported by grants from the National Institutes of Health (AI044924, AR068247, GM007569).

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