Article
Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation.
Proceedings of the National Academy of Sciences of the United States of America - 8 Feb 2011
Cappola Thomas P, Matkovich Scot J, Wang Wei, van Booven Derek, Li Mingyao, Wang Xuexia, Qu Liming, Sweitzer Nancy K, Fang James C, Reilly Muredach P, Hakonarson Hakon, Nerbonne Jeanne M, Dorn Gerald W
Abstract excerpt
Common heart failure has a strong undefined heritable component. Two recent independent cardiovascular SNP array studies identified a common SNP at 1p36 in intron 2 of the HSPB7 gene as being associated with heart failure. HSPB7 resequencing identified other risk alleles but no functional gene variants. Here, we further show no effect of the HSPB7 SNP on cardiac HSPB7 mRNA levels or splicing, suggesting that the...
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