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Genetic modifiers and phenotype of Duchenne muscular dystrophy: A systematic review and meta-analysis
dc.contributor.author | Pascual-Morena, Carlos | |
dc.contributor.author | Cavero-Redondo, Iván | |
dc.contributor.author | Saz-Lara, Alicia | |
dc.contributor.author | Sequí-Domínguez, Irene | |
dc.contributor.author | Lucerón-Lucas-Torres, Maribel Isabel | |
dc.contributor.author | Martinez Vizcaino, Vicente J. | |
dc.date.accessioned | 2021-09-10T03:23:35Z | |
dc.date.available | 2021-09-10T03:23:35Z | |
dc.date.issued | 2021-08 | |
dc.identifier | 10.3390/ph14080798 | |
dc.identifier.issn | 14248247 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12728/9514 | |
dc.description.abstract | 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. | es_ES |
dc.language.iso | en | es_ES |
dc.publisher | MDPI AG | es_ES |
dc.subject | Duchenne muscular dystrophy | es_ES |
dc.subject | LTBP4 | es_ES |
dc.subject | Meta-analysis | es_ES |
dc.subject | Polymorphism | es_ES |
dc.subject | SPP1 | es_ES |
dc.subject | Systematic review | es_ES |
dc.subject | TGFβ | es_ES |
dc.title | Genetic modifiers and phenotype of Duchenne muscular dystrophy: A systematic review and meta-analysis | es_ES |
dc.type | Article | es_ES |