{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:00:40Z","timestamp":1772118040637,"version":"3.50.1"},"reference-count":65,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T00:00:00Z","timestamp":1628812800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007480","name":"Universidad de Castilla-La Mancha","doi-asserted-by":"publisher","award":["2018-CPUCLM-7939"],"award-info":[{"award-number":["2018-CPUCLM-7939"]}],"id":[{"id":"10.13039\/501100007480","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pharmaceuticals"],"abstract":"<jats:p>The transforming growth factor beta (TGF\u03b2) pathway could modulate the Duchenne muscular dystrophy (DMD) phenotype. This meta-analysis aims to estimate the association of genetic variants involved in the TGF\u03b2 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\u20130.90). 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.<\/jats:p>","DOI":"10.3390\/ph14080798","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T05:34:46Z","timestamp":1628832886000},"page":"798","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Genetic Modifiers and Phenotype of Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1154-8752","authenticated-orcid":false,"given":"Carlos","family":"Pascual-Morena","sequence":"first","affiliation":[{"name":"Health and Social Research Center, Universidad de Castilla\u2014La Mancha, 16071 Cuenca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2617-0430","authenticated-orcid":false,"given":"Iv\u00e1n","family":"Cavero-Redondo","sequence":"additional","affiliation":[{"name":"Health and Social Research Center, Universidad de Castilla\u2014La Mancha, 16071 Cuenca, Spain"},{"name":"Rehabilitation in Health Research Center (CIRES), Universidad de las Am\u00e9ricas, Santiago 72819, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"Saz-Lara","sequence":"additional","affiliation":[{"name":"Health and Social Research Center, Universidad de Castilla\u2014La Mancha, 16071 Cuenca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Sequ\u00ed-Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"Health and Social Research Center, Universidad de Castilla\u2014La Mancha, 16071 Cuenca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maribel","family":"Lucer\u00f3n-Lucas-Torres","sequence":"additional","affiliation":[{"name":"Health and Social Research Center, Universidad de Castilla\u2014La Mancha, 16071 Cuenca, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6121-7893","authenticated-orcid":false,"given":"Vicente","family":"Mart\u00ednez-Vizca\u00edno","sequence":"additional","affiliation":[{"name":"Health and Social Research Center, Universidad de Castilla\u2014La Mancha, 16071 Cuenca, Spain"},{"name":"Facultad de Ciencias de la Salud, Universidad Aut\u00f3noma de Chile, Talca 3460000, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.nmd.2014.03.008","article-title":"A Systematic Review and Meta-Analysis on the Epidemiology of Duchenne and Becker Muscular Dystrophy","volume":"24","author":"Mah","year":"2014","journal-title":"Neuromuscul. 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