Proc Natl Acad Sci U S A 2011 Feb 19;108(6):2456-61. Epub 2011 Jan 19.
Penn Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
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Gene 2013 Sep 9;527(2):670-2. Epub 2013 Jul 9.
Genética Molecular-Laboratorio Medicina, HUCA, Oviedo, Spain.
A total of 569 individuals aged 55-85 and Caucasian were genotyped for SNP rs10927887 in the Ka renal chloride channel gene (CLCNKA). The following variables were significantly associated with an estimated glomerular filtration rate of (eGFR) <60 ml/min./1. Read More
Circ Cardiovasc Genet 2010 Apr 2;3(2):147-54. Epub 2010 Feb 2.
Penn Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, USA.
Background: Heart failure results from abnormalities in multiple biological processes that contribute to cardiac dysfunction. We tested the hypothesis that inherited variation in genes of known importance to cardiovascular biology would thus contribute to heart failure risk.
Methods And Results: We used the ITMAT/Broad/CARe cardiovascular single-nucleotide polymorphism array to screen referral populations of patients with advanced heart failure for variants in approximately 2000 genes of predicted importance to cardiovascular biology. Read More
Eur Heart J 2011 May 1;32(9):1065-76. Epub 2011 Apr 1.
INSERM U956, Paris 75013, France.
Aims: Dilated cardiomyopathy (DCM) is a major cause of heart failure with a high familial recurrence risk. So far, the genetics of DCM remains largely unresolved. We conducted the first genome-wide association study (GWAS) to identify loci contributing to sporadic DCM. Read More
J Clin Invest 2010 Jan 14;120(1):280-9. Epub 2009 Dec 14.
Center for Pharmacogenomics, Department of Medicine, Washington University School of Medicine, 660 S. Eucliud Avenue, St. Louis, Missouri 63110, USA.
Sporadic heart failure is thought to have a genetic component, but the contributing genetic events are poorly defined. Here, we used ultra-high-throughput resequencing of pooled DNAs to identify SNPs in 4 biologically relevant cardiac signaling genes, and then examined the association between allelic variants and incidence of sporadic heart failure in 2 large Caucasian populations. Resequencing of DNA pools, each containing DNA from approximately 100 individuals, was rapid, accurate, and highly sensitive for identifying common and rare SNPs; it also had striking advantages in time and cost efficiencies over individual resequencing using conventional Sanger methods. Read More