| S38G single-nucleotide polymorphism at the KCNE1 locus is associated with heart failure. | |
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MedLine Citation:
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PMID: 20185111 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Prolongation of the action potential duration, whose major determinants are the delayed-rectifier potassium currents, is a hallmark of failing ventricular myocardium. Genetic variants in the KCNE1 gene, encoding for the beta-subunit (minK) of a slowly activated cardiac potassium channel (I(ks)), may impair myocardial repolarization. Experimental data demonstrated a higher KCNE1 expression in heart failure (HF). OBJECTIVE: The purpose of this study was to investigate the association between a KCNE1 S38G single-nucleotide polymorphism (SNP) and HF. METHODS: We genotyped 197 out of 323 previously investigated patients and 352 healthy controls comparable for age and sex. This study was replicated in 186 HF patients and in 200 healthy subjects comparable for age and sex and recruited from the Department of Cardiovascular Medicine of the National Research Council, Pisa, Italy. RESULTS: A significant difference in genotype distribution and allele frequency between patients and controls was observed for the KCNE1 S38G SNP (P = .002 and P = .0008, respectively). The KCNE1 38G variant was associated with a significant predisposition to HF under a dominant (odds ratio [OR] = 2.22 [1.23-3.28]; P = .008) and additive (OR = 2.13 [1.09-4.15]; P = .03) model, after adjustment for age, sex, and traditional cardiovascular risk factors. No difference in genotype distribution and allele frequency for the KCNE1 S38G SNP according to functional New York Heart Association class was found (P = .4 and P = .3, respectively). In the HF replication study, the KCNE1 38G allele frequency was significantly higher in comparison with that observed in the control population (38G = 0.59 vs. 0.49; P = .004). The 38G allele was associated with HF predisposition under the recessive (OR [95% confidence interval (CI)] = 2.49 [1.45-4.29]; P = .001) and additive models (OR [95% CI] = 2.63 [1.29-5.35]; P = .008), after adjustment for traditional risk factors. CONCLUSION: KCNE1 S38G SNP is associated with HF predisposition in two study populations. Nevertheless, further studies performed in larger populations and aimed to better define the role of this locus are required. |
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Authors:
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Cinzia Fatini; Elena Sticchi; Rossella Marcucci; Valerio Verdiani; Carlo Nozzoli; Cristina Vassallo; Michele Emdin; Rosanna Abbate; Gian Franco Gensini |
Publication Detail:
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Type: Journal Article Date: 2009-12-02 |
Journal Detail:
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Title: Heart rhythm : the official journal of the Heart Rhythm Society Volume: 7 ISSN: 1556-3871 ISO Abbreviation: Heart Rhythm Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-02-26 Completed Date: 2010-06-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101200317 Medline TA: Heart Rhythm Country: United States |
Other Details:
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Languages: eng Pagination: 363-7 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy. cinziafatini@hotmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Aged, 80 and over Female Genetic Predisposition to Disease Genotype Heart Failure / genetics* Humans Male Middle Aged Polymorphism, Single Nucleotide* Potassium Channels, Voltage-Gated / genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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0/KCNE1 protein, human; 0/Potassium Channels, Voltage-Gated |
| Comments/Corrections | |
Comment In:
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Heart Rhythm. 2010 Mar;7(3):368-9
[PMID:
20117060
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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