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dc.contributor.authorAutorPascual-Morena, Carlos.
dc.contributor.authorAutorCavero-Redondo, Iván.
dc.contributor.authorAutorSaz-Lara, Alicia.
dc.contributor.authorAutorSequí-Domínguez, Irene.
dc.contributor.authorAutorLucas-torres, Maribel Lucerón.
dc.contributor.authorAutorMartínez-Vizcaíno, Vicente.
dc.date.accessionedFecha ingreso2024-09-03T19:21:37Z
dc.date.availableFecha disponible2024-09-03T19:21:37Z
dc.date.issuedFecha publicación2021
dc.identifier.citationReferencia BibliográficaPharmaceuticals, 14(8), 17 p.
dc.identifier.issnISSN1424-8247
dc.identifier.uriURLhttp://repositorio.udla.cl/xmlui/handle/udla/1658
dc.identifier.uriURLhttps://www.mdpi.com/journal/pharmaceuticals
dc.description.abstractResumenThe transforming growth factor beta (TGFβ) pathway could modulate the Duchenne muscular dystrophy (DMD) phenotype. This meta-analysis aims to estimate the association of genetic variants involved in the TGFβ pathway, including the latent transforming growth factor beta binding protein 4 (LTBP4) and secreted phosphoprotein 1 (SPP1) genes, among others, with age of loss of ambulation (LoA) and cardiac function in patients with DMD. Meta-analyses were conducted for the hazard ratio (HR) of LoA for each genetic variant. A subgroup analysis was performed in patients treated exclusively with glucocorticoids. Eight studies were included in the systematic review and four in the meta-analyses. The systematic review suggests a protective effect of LTBP4 haplotype IAAM (recessive model) for LoA. It is also suggested that the SPP1 rs28357094 genotype G (dominant model) is associated with early LoA in glucocorticoids-treated patients. The meta-analysis of the LTBP4 haplotype IAAM showed a protective association with LoA, with an HR = 0.78 (95% CI: 0.67–0.90). No association with LoA was observed for the SPP1 rs28357094. The LTBP4 haplotype IAAM is associated with a later LoA, especially in the Caucasian population, while the SPP1 rs28357094 genotype G could be associated with a poor response to glucocorticoids. Future research is suggested for SPP1 rs11730582, LTBP4 rs710160, and THBS1 rs2725797.
dc.format.extentdc.format.extent17 páginas
dc.format.extentdc.format.extent1.840Mb
dc.format.mimetypedc.format.mimetypePDF
dc.language.isoLenguaje ISOeng
dc.publisherEditorMDPI
dc.rightsDerechosCreative Commons Attribution License (CC BY)
dc.sourceFuentesPharmaceuticals
dc.subjectPalabras ClavesLTBP4
dc.subjectPalabras ClavesPolymorphism
dc.subjectPalabras ClavesSystematic review
dc.subjectPalabras ClavesTGFβ
dc.subjectPalabras Claves
dc.subject.lcshdc.subject.lcshDistrofia muscular de Duchenne
dc.subject.lcshdc.subject.lcshMeta-análisis
dc.titleTítuloGenetic modifiers and phenotype of Duchenne muscular dystrophy: A systematic review and meta-analysis
dc.typeTipo de DocumentoArtículo de revisión
dc.udla.catalogadordc.udla.catalogadorCBM
dc.udla.indexdc.udla.indexWoS
dc.udla.indexdc.udla.indexScience Citation Index Expanded
dc.udla.indexdc.udla.indexScopus
dc.udla.indexdc.udla.indexAcademic Search Ultimate
dc.udla.indexdc.udla.indexDOAJ
dc.udla.indexdc.udla.indexBiomedical Reference Collection: Corporate Edition
dc.udla.indexdc.udla.indexEMBASE
dc.identifier.doidc.identifier.doi10.3390/ph14080798
dc.facultaddc.facultadFacultad de Salud y Ciencias Sociales


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