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Involvement of the −420C>G RETN polymorphism in myocardial fibrosis in patients with hypertrophic cardiomyopathy

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dc.contributor.authorHernández Romero, D.
dc.contributor.authorOrenes Piñero, E.
dc.contributor.authorGarcía Honrubia, A.
dc.contributor.authorCliment, V.
dc.contributor.authorRomero Aniorte, A. I.
dc.contributor.authorMartínez, C. M.
dc.contributor.authorGarcía Bautista, M.
dc.contributor.authorMartínez, M.
dc.contributor.authorFeliu, E.
dc.contributor.authorGonzález, J.
dc.contributor.authorCánovas López, Sergio
dc.contributor.authorMontero Argudo, J.A.
dc.contributor.authorValdés, M.
dc.contributor.authorMarín, F.
dc.contributor.departmentCirugía, Pediatría y Obstetricia y Ginecología
dc.date.accessioned2024-07-19T10:07:07Z
dc.date.available2024-07-19T10:07:07Z
dc.date.issued2015-07
dc.description© 2014 The Association for the Publication of the Journal of Internal Medicine. This document is the Published version of a Published Work that appeared in final form in Journal of Internal Medicine. To access the final edited and published work see https://doi.org/10.1111/joim.12334
dc.description.abstractAims Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy and fibrosis. HCM is an autosomal-dominant disease caused by more than 400 mutations in sarcomeric genes. Changes in nonsarcomeric genes contribute to its phenotypic heterogeneity. Cardiac fibrosis can be studied using late gadolinium enhancement (LGE) cardiac magnetic resonance imaging. We evaluated the potential role of two polymorphisms in nonsarcomeric genes on interstitial fibrosis in HCM. Materials and methods Two polymorphisms in nonsarcomeric genes [ACE (deletion of 287 bp in the 16th intron) and RETN (−420C>G)] were analysed in 146 HCM patients. Cardiac fibrosis was assessed using LGE to determine the number of affected segments. Results Allelic frequencies in ACE and RETN polymorphisms were consistent with the Hardy–Weinberg equilibrium (both P > 0.05). We found that the presence of the polymorphic allele in the −420C>G RETN polymorphism was independently associated with the number of affected segments of LGE (P = 0.038). Increased circulating resistin concentration, measured by enzyme-linked immunosorbent assay, was associated with a higher degree of cardiac fibrosis. Myocardial fibrosis, assessed by Masson's trichrome staining, was associated with the −420C>G RETN polymorphism in 46 tissue samples obtained by septal myectomy (P = 0.044). Conclusions The −420C>G RETN polymorphism was independently associated with the degree of cardiac fibrosis, assessed by LGE, in patients with HCM. In addition, there was an association between the polymorphism and the circulating resistin levels as well as with myocardial fibrosis in tissues obtained by myectomy. Investigating the physiological implication of the RETN polymorphism in HCM in combination with the use of imaging technologies might help to establish the severity of disease in patients with HCM.es
dc.embargo.termsSI
dc.formatapplication/pdfes
dc.format.extent9es
dc.identifier.doihttps://doi.org/10.1111/joim.12334
dc.identifier.eisbnJournal of Internal Medicine, 2015, Vol. 278, Issue 1, pp. 50-58es
dc.identifier.issnPrint: 0954-6820
dc.identifier.issnElectronic: 1365-2796
dc.identifier.urihttp://hdl.handle.net/10201/143217
dc.languageenges
dc.publisherWiley
dc.relationThis work was supported by the Instituto de Salud Carlos III (Spain) and in part by Funding FEDER (grant number PS09/00721), the Department of Molecular Biology, Centro Inmunológico de Alicante (Spain), Instituto de Salud Carlos III and Instituto Murciano de Investigaciones Biosanitarias Virgen de la Arrixaca (IMIB, Murcia, Spain) (grant numbers CD09/00010 and APOYO_020/2014 to DHR, RAICMUR_012/2014 to AIRA and APOYO_041/2014 to EOP).es
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/full/10.1111/joim.12334
dc.rightsinfo:eu-repo/semantics/embargoedAccesses
dc.subjectAngiotensin converting enzymees
dc.subjectFibrosises
dc.subjectHypertrophic cardiomyopathyes
dc.subjectLate gadolinium enhancementes
dc.subjectResistines
dc.titleInvolvement of the −420C>G RETN polymorphism in myocardial fibrosis in patients with hypertrophic cardiomyopathyes
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
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