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Gene expression profiling and association studies implicate the neuregulin signaling pathway in Behçet's disease susceptibility

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dc.contributor.authorXavier, Joana M
dc.contributor.authorKrug, Tiago
dc.contributor.authorDavatchi, Fereydoun
dc.contributor.authorShahram, Farhad
dc.contributor.authorFonseca, Benedita V.
dc.contributor.authorJesus, Gorete
dc.contributor.authorBarcelos, Filipe
dc.contributor.authorVedes, Joana
dc.contributor.authorSalgado, Manuel
dc.contributor.authorAbdollahi, Bahar Sadeghi
dc.contributor.authorNadji, Abdolhadi
dc.contributor.authorMoraes-Fontes, Maria Francisca
dc.contributor.authorShafiee, Niloofar Mojarad
dc.contributor.authorGhaderibarmi, Fahmida
dc.contributor.authorVaz Patto, José
dc.contributor.authorCrespo, Jorge
dc.contributor.authorOliveira, Sofia A.
dc.date.accessioned2021-11-29T14:40:16Z
dc.date.available2021-11-29T14:40:16Z
dc.date.issued2013
dc.description© Springer-Verlag Berlin Heidelberg 2013pt_PT
dc.description.abstractBehçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched controls using Affymetrix microarrays and found that the neuregulin signaling pathway was over-represented among the differentially expressed genes. The Epiregulin (EREG), Amphiregulin (AREG), and Neuregulin-1 (NRG1) genes of this pathway stand out as they are also among the top differentially expressed genes. Twelve haplotype tagging SNPs at the EREG-AREG locus and 15 SNPs in NRG1 found associated in at least one published BD genome-wide association study were tested for association with BD in a dataset of 976 Iranian patients and 839 controls. We found a novel association with BD for the rs6845297 SNP located downstream of EREG, and replicated three associations at NRG1 (rs4489285, rs383632, and rs1462891). Multifactor dimensionality reduction analysis indicated the existence of epistatic interactions between EREG and NRG1 variants. EREG-AREG and NRG1, which are members of the epidermal growth factor (EGF) family, seem to modulate BD susceptibility through main effects and gene-gene interactions. These association findings support a role for the EGF/ErbB signaling pathway in BD pathogenesis that warrants further investigation and highlight the importance of combining genetic and genomic approaches to dissect the genetic architecture of complex diseases.pt_PT
dc.description.sponsorshipThis research was supported by the Research Committee of the Tehran University of Medical Sciences (grant 132/714), the Portuguese Fundação para a Ciência e a Tecnologia (grant PTDC/SAU-GMG/098937/2008, doctoral fellowship SFRH/BD/43895/2008 to JMX, and a Ciência contract to SAO), and the Portuguese Instituto do Emprego e Formação Profissional (fellowship to JMX, TK, BVF).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Mol Med (Berl). 2013 Aug;91(8):1013-1023pt_PT
dc.identifier.doi10.1007/s00109-013-1022-4pt_PT
dc.identifier.eissn1432-1440
dc.identifier.issn0946-2716
dc.identifier.urihttp://hdl.handle.net/10451/50197
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Naturept_PT
dc.relation.publisherversionhttps://www.springer.com/journal/109pt_PT
dc.subjectGeneticspt_PT
dc.subjectMicroarraypt_PT
dc.subjectAssociation studypt_PT
dc.subjectBehçet's diseasept_PT
dc.subjectGenetic epidemiologypt_PT
dc.titleGene expression profiling and association studies implicate the neuregulin signaling pathway in Behçet's disease susceptibilitypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardNumberPTDC/SAU-GMG/098937/2008
oaire.awardNumberSFRH/BD/43895/2008
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F098937%2F2008/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F43895%2F2008/PT
oaire.citation.endPage1023pt_PT
oaire.citation.issue8pt_PT
oaire.citation.startPage1013pt_PT
oaire.citation.titleJournal of Molecular Medicinept_PT
oaire.citation.volume91pt_PT
oaire.fundingStream3599-PPCDT
oaire.fundingStreamSFRH
person.familyNameM Xavier
person.givenNameJoana
person.identifier.ciencia-idEE13-176A-5613
person.identifier.orcid0000-0002-0702-6700
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication555d7b2f-0524-4813-8fae-2b9ef9ec8e5e
relation.isAuthorOfPublication.latestForDiscovery555d7b2f-0524-4813-8fae-2b9ef9ec8e5e
relation.isProjectOfPublicatione41d3ad0-193e-4ac3-88bf-cc06b03c42ca
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