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Genetic element of autoimmune disease tracked down

Genetic predisposition to rheumatoid arthritis (RA) and Crohn's disease (CD) is under the control of around 100 risk alleles. EU researchers have identified a system that has facilitated study of these deleterious genes.
Genetic element of autoimmune disease tracked down
Genome-wide association studies have identified the genetic culprits behind autoimmune diseases RA and CD. However, further genomic investigation has so far been impeded as these risk alleles are linked to non-coding areas of the genome. The CHIP SEQ RA CD (Identification of regulator variants in rheumatoid arthritis and Crohn’s disease) project has based their study on epigenetic chromatin marks.

Researchers have narrowed down the most significant chromatin marks out of the hundreds of possible histone modifications to chromatin that may provide redundant information. Not only did they characterise the most relevant chromatin marks but they identified critical cell types where genes impacted by these risk variants could be studied.

Identifying the most informative chromatin marks enabled tracking of the cell specificity involved. The next step was to identify the regulatory elements at tissue and then gene level that were impacted by the risk variants.

Overall, the team have elucidated the role of risk variants on perhaps the most medically significant multiple complex diseases in Europe. This novel approach targeted RA, CD, Parkinson’s disease and type 2 diabetes. Dissemination via peer-reviewed journals and conferences has been wide and the source code for the frameworks developed has been distributed.

Research results of the project will provide a firm knowledge base to identify novel molecular cascades underlying these complex diseases. This promises to uncover new candidate disease genes and facilitate development of targeted drugs.

Related information


Autoimmune disease, rheumatoid arthritis, Crohn's disease, chromatin marks, histone, targeted drugs
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