Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/355377
Full metadata record
DC FieldValueLanguage
dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampMelo, Mônica Barbosa de-
dc.typeArtigopt_BR
dc.titleGenotype-phenotype correlations in CYP1B1-associated primary congenital glaucoma patients representing two large cohorts from India and Brazilpt_BR
dc.contributor.authorde Melo, Monica Barbosa-
dc.contributor.authorMandal, Anil K.-
dc.contributor.authorTavares, Ivan M.-
dc.contributor.authorAli, Mohammed Hasnat-
dc.contributor.authorKabra, Meha-
dc.contributor.authorCabral de Vasconcellos, Jose Paulo-
dc.contributor.authorSenthil, Sirisha-
dc.contributor.authorSallum, Juliana M. F.-
dc.contributor.authorKaur, Inderjeet-
dc.contributor.authorBetinjane, Alberto J.-
dc.contributor.authorMoura, Christiane R.-
dc.contributor.authorPaula, Jayter S.-
dc.contributor.authorCosta, Karita A.-
dc.contributor.authorSarfarazi, Mansoor-
dc.contributor.authorDella Paolera, Mauricio-
dc.contributor.authorFinzi, Simone-
dc.contributor.authorFerraz, Victor E. F.-
dc.contributor.authorCosta, Vital P.-
dc.contributor.authorBelfort Junior, Rubens-
dc.contributor.authorChakrabarti, Subhabrata-
dc.subjectGlaucomapt_BR
dc.subjectGene CYP1B1pt_BR
dc.subject.otherlanguageGlaucomapt_BR
dc.subject.otherlanguageCYP1B1 genept_BR
dc.description.abstractPrimary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present study attempted to delineate the clinical profile of PCG in the background of CYP1B1 mutations from a large cohort of 901 subjects from India (n=601) and Brazil (n=300). Genotype-phenotype correlations was undertaken on clinically well characterized PCG cases from India (n=301) and Brazil (n=150) to assess the contributions of CYP1B1 mutation on a set of demographic and clinical parameters. The demographic (gender, and history of consanguinity) and quantitative clinical (presenting intraocular pressure [IOP] and corneal diameter [CD]) parameters were considered as binary and continuous variables, respectively, for PCG patients in the background of the overall mutation spectra and also with respect to the prevalent mutations in India (R368H) and Brazil (4340delG). All these variables were fitted in a multivariate logistic regression model using the Akaike Information Criterion (AIC) to estimate the adjusted odds ratio (OR) using the R software (version 2.14.1). The overall mutation spectrum were similar across the Indian and Brazilian PCG cases, despite significantly higher number of homozygous mutations in the former (p=0.024) and compound heterozygous mutations in the later (p=0.012). A wide allelic heterogeneity was observed and only 6 mutations were infrequently shared between these two populations. The adjusted ORs for the binary (demographic) and continuous (clinical) variables did not indicate any susceptibility to the observed mutations (p>0.05). The present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutations in PCG at presentation. However, the susceptibility of these mutations to the long-term progression of these traits are yet to be decipheredpt_BR
dc.relation.ispartofPLoS onept_BR
dc.publisher.citySan Francisco, CApt_BR
dc.publisher.countryEstados Unidospt_BR
dc.publisherPublic Library of Sciencept_BR
dc.date.issued2015-
dc.date.monthofcirculationMaypt_BR
dc.language.isoengpt_BR
dc.description.volume10pt_BR
dc.description.issuenumber5pt_BR
dc.rightsAbertopt_BR
dc.sourceWOSpt_BR
dc.identifier.eissn1932-6203pt_BR
dc.identifier.doi10.1371/journal.pone.0127147pt_BR
dc.identifier.urlhttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0127147pt_BR
dc.description.sponsorshipCONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQpt_BR
dc.description.sponsordocumentnumberEU475687/20094pt_BR
dc.date.available2021-02-08T20:20:00Z-
dc.date.accessioned2021-02-08T20:20:00Z-
dc.description.provenanceSubmitted by Cintia Oliveira de Moura (cintiaom@unicamp.br) on 2021-02-08T20:20:00Z No. of bitstreams: 0en
dc.description.provenanceMade available in DSpace on 2021-02-08T20:20:00Z (GMT). No. of bitstreams: 0 Previous issue date: 2015en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/355377-
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.unidadeCentro de Hematologia e Hemoterapiapt_BR
dc.identifier.source000354916100131pt_BR
dc.creator.orcidsem informaçãopt_BR
dc.type.formArtigo de pesquisapt_BR
dc.identifier.articleide0127147pt_BR
dc.description.sponsorNoteDepartment of Science & Technology (India)pt_BR
Appears in Collections:FCM - Artigos e Outros Documentos

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.