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Genetic modifiers and phenotype of Duchenne muscular dystrophy: A systematic review and meta-analysis
dc.contributor.author | Autor | Pascual-Morena, Carlos. | |
dc.contributor.author | Autor | Cavero-Redondo, Iván. | |
dc.contributor.author | Autor | Saz-Lara, Alicia. | |
dc.contributor.author | Autor | Sequí-Domínguez, Irene. | |
dc.contributor.author | Autor | Lucas-torres, Maribel Lucerón. | |
dc.contributor.author | Autor | Martínez-Vizcaíno, Vicente. | |
dc.date.accessioned | Fecha ingreso | 2024-09-03T19:21:37Z | |
dc.date.available | Fecha disponible | 2024-09-03T19:21:37Z | |
dc.date.issued | Fecha publicación | 2021 | |
dc.identifier.citation | Referencia Bibliográfica | Pharmaceuticals, 14(8), 17 p. | |
dc.identifier.issn | ISSN | 1424-8247 | |
dc.identifier.uri | URL | http://repositorio.udla.cl/xmlui/handle/udla/1658 | |
dc.identifier.uri | URL | https://www.mdpi.com/journal/pharmaceuticals | |
dc.description.abstract | Resumen | The 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.extent | dc.format.extent | 17 páginas | |
dc.format.extent | dc.format.extent | 1.840Mb | |
dc.format.mimetype | dc.format.mimetype | ||
dc.language.iso | Lenguaje ISO | eng | |
dc.publisher | Editor | MDPI | |
dc.rights | Derechos | Creative Commons Attribution License (CC BY) | |
dc.source | Fuentes | Pharmaceuticals | |
dc.subject | Palabras Claves | LTBP4 | |
dc.subject | Palabras Claves | Polymorphism | |
dc.subject | Palabras Claves | Systematic review | |
dc.subject | Palabras Claves | TGFβ | |
dc.subject | Palabras Claves | ||
dc.subject.lcsh | dc.subject.lcsh | Distrofia muscular de Duchenne | |
dc.subject.lcsh | dc.subject.lcsh | Meta-análisis | |
dc.title | Título | Genetic modifiers and phenotype of Duchenne muscular dystrophy: A systematic review and meta-analysis | |
dc.type | Tipo de Documento | Artículo de revisión | |
dc.udla.catalogador | dc.udla.catalogador | CBM | |
dc.udla.index | dc.udla.index | WoS | |
dc.udla.index | dc.udla.index | Science Citation Index Expanded | |
dc.udla.index | dc.udla.index | Scopus | |
dc.udla.index | dc.udla.index | Academic Search Ultimate | |
dc.udla.index | dc.udla.index | DOAJ | |
dc.udla.index | dc.udla.index | Biomedical Reference Collection: Corporate Edition | |
dc.udla.index | dc.udla.index | EMBASE | |
dc.identifier.doi | dc.identifier.doi | 10.3390/ph14080798 | |
dc.facultad | dc.facultad | Facultad de Salud y Ciencias Sociales |