Finding common ground for various diseases

Cross-disease analysis shows genetic reasons for the common appearance of inflammatory diseases

Highlight from the e:Med Newsletter

Why are some patients affected by several inflammatory diseases, for instance, intestinal and liver diseases, at the same time? e:Med scientists are seeking to understand the cause why inflammatory diseases appear together.

Many inflammatory diseases surprisingly often appear together. Scientists led by Professor Andre Franke and Professor David Ellinghaus from Kiel, both members of the e:Med Consortium SysINFLAME, now have investigated genetic causes of these chronic inflammatory diseases in a systems medicine approach. Their results show that shared pathophysiological pathways provide the basis for the joint occurrence of the studied diseases. The systems medicine oriented study design – statistical analysis of large genetic cohorts that cover a range of illnesses – allows a better understanding of complex molecular interactions regarding various types of diseases. For their experiments, the scientists chose five frequently jointly appearing diseases affecting the joints, intestine, liver or skin. They examined over 86,000 samples of patients and healthy persons using complex analytical approaches.
Using this method, the researchers discovered 27 new genetic associations, which the diseases examined all have in common. Despite this, the scientists also demonstrated that there are clear genetic differences between the diseases. It is interesting that the genetic signature of patients with several inflammatory diseases is different from patients affected by only one of those. Of the diseases examined an inflammatory liver disease, primary sclerosing cholangitis (PSC) and inflammatory bowel diseases (IBD) very often occur together. The patients show genetic changes that are typical for the PSC-IBD combination and which are different from patients who are exclusively affected by IBD. The authors’ overall conclusion is that patients suffering from PSC in combination with IBD in future will have to be classified differently compared to patients only suffering from IBD. The scientists now will include further diseases and clinical data in their studies in order to gain an even more comprehensive overview.
This insight into common features of diseases can help to develop new specialized therapies and to transfer established therapies to other diseases.

 

Original publication:

Ellinghaus, D., Jostins, L., Spain, S. L., Cortes, A., Bethune, J., Han, B., … Franke, A. (2016). Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. Nature Genetics, 48(5), 510–518. doi.org/10.1038/ng.3528

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