Featured
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Letter |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation
Patrick Ellinor and colleagues report a meta-analysis of genome-wide association studies for atrial fibrillation in European populations. They identify six newly associated loci, four of which were replicated in a Japanese study.
- Patrick T Ellinor
- , Kathryn L Lunetta
- & Stefan Kääb
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Letter |
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
Xavier Jeunemaitre, Jean-Jacques Schott and colleagues report mutations of KLHL3 in familial hyperkalemic hypertension. KLHL3 encodes a BTB-BACK-kelch family actin-binding protein and regulates cell surface localization of the NaNa+-Cl− cotransporter, a key regulator of ion resorption, at the distal nephron.
- Hélène Louis-Dit-Picard
- , Julien Barc
- & Xavier Jeunemaitre
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Letter |
Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis
Benoit Bruneau and colleagues show that Ezh2 stabilizes cardiac gene expression and prevents postnatal heart pathology by repressing the homeodomain transcription factor Six1 in differentiating cardiac progenitors. Their results suggest that epigenetic dysregulation in embryonic progenitor cells can predispose to adult disease.
- Paul Delgado-Olguín
- , Yu Huang
- & Benoit G Bruneau
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Letter |
Large-scale discovery of enhancers from human heart tissue
Len Pennacchio, Axel Visel and colleagues use an epigenomic approach to identify a large number of candidate enhancers from human heart tissue. This work will facilitate further studies into the role of enhancers in human cardiac development and disease.
- Dalit May
- , Matthew J Blow
- & Axel Visel
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Letter |
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1
Dianna Milewicz and colleagues report a genome-wide association study of sporadic thoracic aortic aneurysm and dissection. They identify an associated locus on 15q21 spanning the FBN1 gene.
- Scott A LeMaire
- , Merry-Lynn N McDonald
- & Dianna M Milewicz
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Article |
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction
Nona Sotoodehnia and colleagues report a meta-analysis of 14 genome-wide association studies for QRS interval, an electrocardiogram measurement of cardiac ventricular conduction. They identify 22 loci associated with QRS duration.
- Nona Sotoodehnia
- , Aaron Isaacs
- & Dan E Arking
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Letter |
ChIP-Seq identification of weakly conserved heart enhancers
Len Pennacchio and colleagues used ChIP-Seq with the enhancer-associated protein p300 to identify 3,000 candidate cardiac transcriptional enhancers in embryonic mice at E11.5. Notably, most candidate heart enhancers at this time point are not deeply evolutionarily conserved.
- Matthew J Blow
- , David J McCulley
- & Len A Pennacchio
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Letter |
Genetic variation in SCN10A influences cardiac conduction
John Chambers and colleagues report genome-wide association studies to several ECG measurements, identifying an association of SCN10A to PR interval. They find that Scn10a−/− mice show a shorter PR interval.
- John C Chambers
- , Jing Zhao
- & Jaspal S Kooner
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Letter |
Genome-wide association study of PR interval
Arne Pfeufer and colleagues report a genome-wide association study of the electrocardiographic measurement of PR interval in seven population-based cohorts in the CHARGE consortium. They identify nine loci associated with PR interval and highlight candidate genes with a role in ion channels and cardiac development.
- Arne Pfeufer
- , Charlotte van Noord
- & Susan R Heckbert
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension