Involvement of the-420C > G RETN polymorphism in myocardial fibrosis in patients with hypertrophic cardiomyopathy
Autors de IIS La Fe
Autors aliens a IIS La Fe
- Hernández-Romero D
- Orenes-Piñero E
- García-Honrubia A
- Climent V
- Romero-Aniorte AI
- Martínez CM
- García-Bautista M
- Martínez M
- Feliu E
- González J
- Cánovas S
- Valdés M
Grups d'Investigació
Abstract
AimsHypertrophic 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 methodsTwo polymorphisms in nonsarcomeric genes [ACE (deletion of 287bp 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. ResultsAllelic frequencies in ACE and RETN polymorphisms were consistent with the Hardy-Weinbergequilibrium (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). ConclusionsThe -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.
Dades de la publicació
- ISSN/ISSNe:
- 0954-6820, 1365-2796
- Tipus:
- Article
- Pàgines:
- 50-58
- DOI:
- 10.1111/joim.12334
- PubMed:
- 25476756
- Factor d'Impacte:
- 3,331 SCImago ℠
- Quartil:
- Q1 SCImago ℠
JOURNAL OF INTERNAL MEDICINE WILEY-BLACKWELL
Cites Rebudes en Web of Science: 5
Documents
- No hi ha documents
Filiacions
Keywords
- angiotensin-converting enzyme; fibrosis; hypertrophic cardiomyopathy; late gadolinium enhancement; resistin
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