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dc.contributor.authorAuthorPascual-Morena, Carlos.
dc.contributor.authorAuthorCavero-Redondo, Iván.
dc.contributor.authorAuthorSaz-Lara, Alicia.
dc.contributor.authorAuthorSequí-Domínguez, Irene.
dc.contributor.authorAuthorLucas-torres, Maribel Lucerón.
dc.contributor.authorAuthorMartínez-Vizcaíno, Vicente.
dc.date.accessionedDate Accessioned2024-09-03T19:21:37Z
dc.date.availableDate Available2024-09-03T19:21:37Z
dc.date.issuedDate Issued2021
dc.identifier.citationReferencia BibliográficaPharmaceuticals, 14(8), 17 p.
dc.identifier.issnISSN1424-8247
dc.identifier.uriURIhttp://repositorio.udla.cl/xmlui/handle/udla/1658
dc.identifier.uriURIhttps://www.mdpi.com/journal/pharmaceuticals
dc.description.abstractAbstractThe 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.isoLanguage ISOeng
dc.publisherPublisherMDPI
dc.rightsRightsCreative Commons Attribution License (CC BY)
dc.sourceSourcesPharmaceuticals
dc.subjectSubjectLTBP4
dc.subjectSubjectPolymorphism
dc.subjectSubjectSystematic review
dc.subjectSubjectTGFβ
dc.subjectSubject
dc.subject.lcshdc.subject.lcshDistrofia muscular de Duchenne
dc.subject.lcshdc.subject.lcshMeta-análisis
dc.titleTitleGenetic modifiers and phenotype of Duchenne muscular dystrophy: A systematic review and meta-analysis
dc.typeDocument TypeArtículo 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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