Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases

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  • dc.contributor.author Mayer, Miguel Ángel, 1960-ca
  • dc.contributor.author Bundschus, Markusca
  • dc.contributor.author Rautschka, Michaelca
  • dc.contributor.author Sanz, Ferranca
  • dc.contributor.author Furlong, Laura I., 1971-ca
  • dc.date.accessioned 2013-03-11T09:40:39Z
  • dc.date.available 2013-03-11T09:40:39Z
  • dc.date.issued 2011ca
  • dc.description.abstract Abstract/nBACKGROUND: Scientists have been trying to understand the molecular mechanisms of diseases to design preventive and therapeutic strategies for a long time. For some diseases, it has become evident that it is not enough to obtain a catalogue of the disease-related genes but to uncover how disruptions of molecular networks in the cell give rise to disease phenotypes. Moreover, with the unprecedented wealth of information available, even obtaining such catalogue is extremely difficult./n/nPRINCIPAL FINDINGS: We developed a comprehensive gene-disease association database by integrating associations from several sources that cover different biomedical aspects of diseases. In particular, we focus on the current knowledge of human genetic diseases including mendelian, complex and environmental diseases. To assess the concept of modularity of human diseases, we performed a systematic study of the emergent properties of human gene-disease networks by means of network topology and functional annotation analysis. The results indicate a highly shared genetic origin of human diseases and show that for most diseases, including mendelian, complex and environmental diseases, functional modules exist. Moreover, a core set of biological pathways is found to be associated with most human diseases. We obtained similar results when studying clusters of diseases, suggesting that related diseases might arise due to dysfunction of common biological processes in the cell./n/nCONCLUSIONS: For the first time, we include mendelian, complex and environmental diseases in an integrated gene-disease association database and show that the concept of modularity applies for all of them. We furthermore provide a functional analysis of disease-related modules providing important new biological insights, which might not be discovered when considering each of the gene-disease association repositories independently. Hence, we present a suitable framework for the study of how genetic and environmental factors, such as drugs, contribute to diseases./n/nAVAILABILITY: The gene-disease networks used in this study and part of the analysis are available at http://ibi.imim.es/DisGeNET/DisGeNETweb.html#Download
  • dc.description.sponsorship This work was supported by the European Commission [EU-ADR, ICT-215847], Innovative Medicines Initiative [eTOX,115002], the AGAUR [to A.B.M.] and Instituto de Salud Carlos III FEDER (CP10/00524) grants
  • dc.format.mimetype application/pdfca
  • dc.identifier.citation Bauer-Mehren A, Bundschus M, Rautschka M, Mayer MA, Sanz F, Furlong LI. Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases. PLoS One. 2011; 6(6): e20284. Epub 2011 Jun 14. DOI 10.1371/journal.pone.0020284ca
  • dc.identifier.doi http://dx.doi.org/10.1371/journal.pone.0020284
  • dc.identifier.issn 1932-6203ca
  • dc.identifier.uri http://hdl.handle.net/10230/20472
  • dc.language.iso engca
  • dc.publisher Public Library of Science (PLoS)ca
  • dc.relation.ispartof PLoS One. 2011; 6(6): e20284
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/215847
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/115002
  • dc.rights © 2011 Bauer-Mehren et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits/nunrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.ca
  • dc.rights.accessRights info:eu-repo/semantics/openAccessca
  • dc.rights.uri http://creativecommons.org/licenses/by/2.5/
  • dc.subject.other Genètica mèdica
  • dc.title Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseasesca
  • dc.type info:eu-repo/semantics/articleca
  • dc.type.version info:eu-repo/semantics/publishedVersionca

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