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Conference Paper: Systems biology approaches to the search for disease genes in Hirschsprung‘s disease

TitleSystems biology approaches to the search for disease genes in Hirschsprung‘s disease
Authors
Issue Date2014
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
European Human Genetics Conference in conjunction with the European Meeting on Psychosocial aspects of Genetics, Milan, Italy, 31 May-3 June 2014. In European Journal of Human Genetics, 2014, v. 22 n. Suppl. 1, p. 313, abstract no. P16.44-M How to Cite?
AbstractThe availability of new methodologies of high performance has revolutionized our ability to discovery. However, the high resolution of such technologies can become a double-edged sword. Reduced sample sizes available in rare diseases are often an obstacle for the detection of candidate genes or the study of their molecular basis. The limitations of the approaches based on isolated genes can be overcome using systems biology approaches. This study shows as a combination of pathway-based analysis (PBA) and network analysis allowed to discover four new loci (RASGEF1A and IQGAP2, DLC1 CHRNA7) related to signalling and migration processes associated with the disease, which were then validated in a cohort of 106 independent trios. The further study of an international cohort of 162 HSCR trios allowed us to confirm the molecular bases of disease using PBA. We found a significant association of processes related to signalling and its regulation as well as formation of the enteric nervous system. Although the genes associated with HSCR varied in different populations, the functions and interaction of affected networks of proteins were always the same, which reflects the complexity of the disease. This methodology of prioritization of candidate genes can be extrapolated to any technology of high performance (WES, RNA-seq, etc.).
DescriptionPoster Presentation
Persistent Identifierhttp://hdl.handle.net/10722/201361
ISSN
2015 Impact Factor: 4.58
2015 SCImago Journal Rankings: 2.077

 

DC FieldValueLanguage
dc.contributor.authorLuzon-Toro, Ben_US
dc.contributor.authorBleda, Men_US
dc.contributor.authorFernandez, RMen_US
dc.contributor.authorGarcia-Alonso, Len_US
dc.contributor.authorArnold, Sen_US
dc.contributor.authorSribudiani, Yen_US
dc.contributor.authorBesmond, Cen_US
dc.contributor.authorLantieri, Fen_US
dc.contributor.authorTorroglosa, Aen_US
dc.contributor.authorEnguix-Riego, Men_US
dc.contributor.authorGarcia-Barcelo, MMen_US
dc.contributor.authorTam, PKHen_US
dc.contributor.authorCeccherini, Ien_US
dc.contributor.authorLyonnet, Sen_US
dc.contributor.authorHofstra, RMen_US
dc.contributor.authorChakravarti, Aen_US
dc.contributor.authorAntinolo, Gen_US
dc.contributor.authorDopazo, Jen_US
dc.contributor.authorBorrego, Sen_US
dc.date.accessioned2014-08-21T07:25:24Z-
dc.date.available2014-08-21T07:25:24Z-
dc.date.issued2014en_US
dc.identifier.citationEuropean Human Genetics Conference in conjunction with the European Meeting on Psychosocial aspects of Genetics, Milan, Italy, 31 May-3 June 2014. In European Journal of Human Genetics, 2014, v. 22 n. Suppl. 1, p. 313, abstract no. P16.44-Men_US
dc.identifier.issn1018-4813-
dc.identifier.urihttp://hdl.handle.net/10722/201361-
dc.descriptionPoster Presentation-
dc.description.abstractThe availability of new methodologies of high performance has revolutionized our ability to discovery. However, the high resolution of such technologies can become a double-edged sword. Reduced sample sizes available in rare diseases are often an obstacle for the detection of candidate genes or the study of their molecular basis. The limitations of the approaches based on isolated genes can be overcome using systems biology approaches. This study shows as a combination of pathway-based analysis (PBA) and network analysis allowed to discover four new loci (RASGEF1A and IQGAP2, DLC1 CHRNA7) related to signalling and migration processes associated with the disease, which were then validated in a cohort of 106 independent trios. The further study of an international cohort of 162 HSCR trios allowed us to confirm the molecular bases of disease using PBA. We found a significant association of processes related to signalling and its regulation as well as formation of the enteric nervous system. Although the genes associated with HSCR varied in different populations, the functions and interaction of affected networks of proteins were always the same, which reflects the complexity of the disease. This methodology of prioritization of candidate genes can be extrapolated to any technology of high performance (WES, RNA-seq, etc.).-
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg-
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.titleSystems biology approaches to the search for disease genes in Hirschsprung‘s diseaseen_US
dc.typeConference_Paperen_US
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hken_US
dc.identifier.emailTam, PKH: paultam@hku.hken_US
dc.identifier.authorityGarcia-Barcelo, MM=rp00445en_US
dc.identifier.authorityTam, PKH=rp00060en_US
dc.identifier.hkuros233767en_US
dc.identifier.volume22-
dc.identifier.issueSuppl. 1-
dc.identifier.spage313, abstract no. P16.44-M-
dc.identifier.epage313, abstract no. P16.44-M-
dc.publisher.placeUnited Kingdom-

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