期刊
EUROPEAN HEART JOURNAL
卷 29, 期 20, 页码 2514-2525出版社
OXFORD UNIV PRESS
DOI: 10.1093/eurheartj/ehn328
关键词
Calcium; Sarcoplasmic reticulum; Prognosis; Defibrillation
资金
- Biomedical Research Foundation
- Academy of Athens
- John F. Kostopoulos Foundation
- Hellenic Cardiological Society
- NIH [HL26057, HL64018, HL77101]
- Leducq Foundation Trans-Atlantic alliance
- European Union 6th Framework Program for Research and Technological Development [LSHG-CT-2006-037277]
- Evangelia G. Kranias
- University of Cincinnati College of Medicine
Aims To investigate whether genetic variants of the histidine-rich calcium (HRC)-binding protein are associated with idiopathic dilated cardiomyopathy (DCM) and its progression. Methods and results We screened 123 idiopathic DCM patients and 96 healthy individuals by single-strand conformation polymorphism analysis and direct sequencing for genetic variants in HRC. Six polymorphisms were detected: Leu35Leu (A/G), Ser43Asn (G/A), Ser96Ala (T/G), Glu202_Glu203insGlu (-/GAG), Asp261del (GAT/-), and an in-frame insertion of 51 amino acids at His321. The analysis of their frequencies did not reveal any significant correlation with DCM development. However, the Ser96Ala polymorphism exhibited a statistically significant correlation with the occurrence of life-threatening ventricular arrhythmias. During a follow-up of 4.02 +/- 2.4 years, the risk for ventricular arrhythmias was higher (HR, 9.620; 95% CI, 2.183-42.394; P = 0.003) in the Ala/Ala patients, compared with Ser/ Ser homozygous patients. On multivariable Cox regression analysis, the Ser96Ala polymorphism was the only significant genetic arrythmogenesis predictor in DCM patients (HR, 4.191; 95% CI, 0.838-20.967; P = 0.018). Conclusion The Ser96Ala genetic variant of HRC is associated with life-threatening ventricular arrhythmias in idiopathic DCM and may serve as an independent predictor of susceptibility to arrhythmogenesis in the setting of DCM.
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