Polymorphism in the Alpha Cardiac Muscle Actin 1 Gene Is Associated to Susceptibility to Chronic Inflammatory Cardiomyopathy

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorFRADE, Amanda Farage
dc.contributor.authorTEIXEIRA, Priscila Camilo
dc.contributor.authorIANNI, Barbara Maria
dc.contributor.authorPISSETTI, Cristina Wide
dc.contributor.authorSABA, Bruno
dc.contributor.authorWANG, Lin Hui Tzu
dc.contributor.authorKURAMOTO, Andreia
dc.contributor.authorNOGUEIRA, Luciana Gabriel
dc.contributor.authorBUCK, Paula
dc.contributor.authorDIAS, Fabricio
dc.contributor.authorGINIAUX, Helene
dc.contributor.authorLLORED, Agnes
dc.contributor.authorALVES, Sthefanny
dc.contributor.authorSCHMIDT, Andre
dc.contributor.authorDONADI, Eduardo
dc.contributor.authorMARIN-NETO, Jose Antonio
dc.contributor.authorHIRATA, Mario
dc.contributor.authorSAMPAIO, Marcelo
dc.contributor.authorFRAGATA, Abilio
dc.contributor.authorBOCCHI, Edimar Alcides
dc.contributor.authorSTOLF, Antonio Noedir
dc.contributor.authorFIORELLI, Alfredo Inacio
dc.contributor.authorSANTOS, Ronaldo Honorato Barros
dc.contributor.authorRODRIGUES, Virmondes
dc.contributor.authorPEREIRA, Alexandre Costa
dc.contributor.authorKALIL, Jorge
dc.contributor.authorCUNHA-NETO, Edecio
dc.contributor.authorCHEVILLARD, Christophe
dc.date.accessioned2014-04-25T21:50:35Z
dc.date.available2014-04-25T21:50:35Z
dc.date.issued2013
dc.description.abstractAims: Chagas disease, caused by the protozoan Trypanosoma cruzi is endemic in Latin America, and may lead to a life-threatening inflammatory dilated, chronic Chagas cardiomyopathy (CCC). One third of T. cruzi-infected individuals progress to CCC while the others remain asymptomatic (ASY). A possible genetic component to disease progression was suggested by familial aggregation of cases and the association of markers of innate and adaptive immunity genes with CCC development. Since mutations in multiple sarcomeric genes, including alpha-cardiac actin (ACTC1) have been involved in hereditary dilated cardiomyopathy, we investigated the involvement of the ACTC1 gene in CCC pathogenesis. Methods and Results: We conducted a proteomic and genetic study on a Brazilian study population. The genetic study was done on a main cohort including 118 seropositive asymptomatic subjects and 315 cases and the replication was done on 36 asymptomatic and 102 CCC cases. ACTC1 protein and mRNA levels were lower in myocardial tissue from patients with end-stage CCC than those found in hearts from organ donors. Genotyping a case-control cohort of CCC and ASY subjects for all informative single nucleotide polymorphism (SNP) in the ACTC1 gene identified rs640249 SNP, located at the 5' region, as associated to CCC. Associations are borderline after correction for multiple testing. Correlation and haplotype analysis led to the identification of a susceptibility haplotype. Functional assays have shown that the rs640249A/C polymorphism affects the binding of transcriptional factors in the promoter regions of the ACTC1 gene. Confirmation of the detected association on a larger independent replication cohort will be useful. Conclusions: Genetic variations at the ACTC1 gene may contribute to progression to chronic Chagas Cardiomyopathy among T. cruzi-infected patients, possibly by modulating transcription factor binding to ACTC1 promoter regions.
dc.description.indexMEDLINE
dc.description.sponsorshipInstitut National de la Sante et de la Recherche Medicale (INSERM), Aix-Marseille University (Direction des Relations Internationales)
dc.description.sponsorshipUSP-COFECUB program
dc.description.sponsorshipARCUS II PACA Brasil program
dc.description.sponsorshipCNPq (the Brazilian National Research Council)
dc.description.sponsorshipFAPESP (Sao Paulo State Research Funding Agency-Brazil)
dc.description.sponsorshipFrench ANR agency
dc.description.sponsorshipBrazilian FAPESP agency
dc.identifier.citationPLOS ONE, v.8, n.12, 2013
dc.identifier.doi10.1371/journal.pone.0083446
dc.identifier.issn1932-6203
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/5090
dc.language.isoeng
dc.publisherPUBLIC LIBRARY SCIENCE
dc.relation.ispartofPlos One
dc.rightsopenAccess
dc.rights.holderCopyright PUBLIC LIBRARY SCIENCE
dc.subject.otherchagas-disease cardiomyopathy
dc.subject.othertrypanosoma-cruzi infection
dc.subject.othernecrosis-factor-alpha
dc.subject.othermyosin heavy-chain
dc.subject.otherheart-failure
dc.subject.otherdilated cardiomyopathy
dc.subject.otherejection fraction
dc.subject.otherexpression
dc.subject.othermyocarditis
dc.subject.otheractivation
dc.subject.wosMultidisciplinary Sciences
dc.titlePolymorphism in the Alpha Cardiac Muscle Actin 1 Gene Is Associated to Susceptibility to Chronic Inflammatory Cardiomyopathy
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryFrança
hcfmusp.affiliation.countryisofr
hcfmusp.author.externalTEIXEIRA, Priscila Camilo:Univ Sao Paulo, Sch Med, Heart Inst InCor, Sao Paulo, Brazil; Inst Nacl Ciencias & Tecnol, Inst Invest Immunol 3, Sao Paulo, Brazil
hcfmusp.author.externalPISSETTI, Cristina Wide:Univ Fed Triangulo Mineiro, Immunol Lab, Uberaba, MG, Brazil
hcfmusp.author.externalSABA, Bruno:Inst Cardiol Dante Pazzanese, Sao Paulo, Brazil
hcfmusp.author.externalWANG, Lin Hui Tzu:Inst Cardiol Dante Pazzanese, Sao Paulo, Brazil
hcfmusp.author.externalDIAS, Fabricio:Univ Sao Paulo, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto, SP, Brazil
hcfmusp.author.externalGINIAUX, Helene:Aix Marseille Univ, Marseille, France
hcfmusp.author.externalLLORED, Agnes:Aix Marseille Univ, Marseille, France
hcfmusp.author.externalALVES, Sthefanny:Univ Sao Paulo, Sch Med, Heart Inst InCor, Sao Paulo, Brazil
hcfmusp.author.externalSCHMIDT, Andre:Univ Sao Paulo, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto, SP, Brazil
hcfmusp.author.externalDONADI, Eduardo:Univ Sao Paulo, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto, SP, Brazil
hcfmusp.author.externalMARIN-NETO, Jose Antonio:Univ Sao Paulo, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto, SP, Brazil
hcfmusp.author.externalHIRATA, Mario:Inst Cardiol Dante Pazzanese, Sao Paulo, Brazil
hcfmusp.author.externalSAMPAIO, Marcelo:Inst Cardiol Dante Pazzanese, Sao Paulo, Brazil
hcfmusp.author.externalFRAGATA, Abilio:Inst Cardiol Dante Pazzanese, Sao Paulo, Brazil
hcfmusp.author.externalCHEVILLARD, Christophe:Aix Marseille Univ, Marseille, France
hcfmusp.citation.scopus25
hcfmusp.contributor.author-fmusphcAMANDA FARAGE FRADE BARROS
hcfmusp.contributor.author-fmusphcBARBARA MARIA IANNI
hcfmusp.contributor.author-fmusphcANDREIA CRISTINA KAZUE KURAMOTO TAKARA
hcfmusp.contributor.author-fmusphcLUCIANA GABRIEL NOGUEIRA BARBOSA
hcfmusp.contributor.author-fmusphcPAULA DE CASSIA BUCK
hcfmusp.contributor.author-fmusphcEDIMAR ALCIDES BOCCHI
hcfmusp.contributor.author-fmusphcNOEDIR ANTONIO GROPPO STOLF
hcfmusp.contributor.author-fmusphcALFREDO INACIO FIORELLI
hcfmusp.contributor.author-fmusphcRONALDO HONORATO BARROS DOS SANTOS
hcfmusp.contributor.author-fmusphcALEXANDRE DA COSTA PEREIRA
hcfmusp.contributor.author-fmusphcJORGE ELIAS KALIL FILHO
hcfmusp.contributor.author-fmusphcEDECIO CUNHA NETO
hcfmusp.description.issue12
hcfmusp.description.volume8
hcfmusp.origemWOS
hcfmusp.origem.pubmed24367596
hcfmusp.origem.scopus2-s2.0-84893170926
hcfmusp.origem.wosWOS:000328741900018
hcfmusp.publisher.citySAN FRANCISCO
hcfmusp.publisher.countryUSA
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hcfmusp.remissive.sponsorshipCNPq
hcfmusp.remissive.sponsorshipFAPESP
hcfmusp.remissive.sponsorshipUSP
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