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Wednesday 25 October 2006


Different diseases often have common underlying mechanisms and shared intermediate pathophenotypes, or endophenotypes.

Within this framework, a specific disease’s expression is a consequence of the interplay between the relevant endophenotypes and their local, organ-based environment. Important examples of such endophenotypes are inflammation, fibrosis, and thrombosis and their essential roles in many developing diseases.

In a study, it has been constructed endophenotype network models and explore their relation to different diseases in general and to cardiovascular diseases in particular.

The authors identify the local neighborhoods (module) within the interconnected map of molecular components, i.e., the subnetworks of the human interactome that represent the inflammasome, thrombosome, and fibrosome.

They find that these neighborhoods are highly overlapping and significantly enriched with disease-associated genes. In particular they are also enriched with differentially expressed genes linked to cardiovascular disease (risk).

Finally, using proteomic data, they explore how macrophage activation contributes to our understanding of inflammatory processes and responses. The results of their analysis show that inflammatory responses initiate from within the cross-talk of the three identified endophenotypic modules.

Open references

- Endophenotype Network Models: Common Core of Complex Diseases.
Ghiassian SD, Menche J, Chasman DI, Giulianini F, Wang R, Ricchiuto P, Aikawa M, Iwata H, Müller C, Zeller T, Sharma A, Wild P, Lackner K, Singh S, Ridker PM, Blankenberg S, Barabási AL, Loscalzo J.
Sci Rep. 2016 Jun 9;6:27414. doi : 10.1038/srep27414
PMID: 27278246 Free PMC Article


- Bearden CE, Freimer NB. Endophenotypes for psychiatric disorders: ready for primetime? Trends Genet. 2006 Jun;22(6):306-13. PMID: 16697071