An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval.

doi:10.1016/j.ajhg.2014.05.001

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Article

An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval.

American journal of human genetics - 5 Jun 2014

Kapoor Ashish, Sekar Rajesh B, Hansen Nancy F, Fox-Talbot Karen, Morley Michael, Pihur Vasyl, Chatterjee Sumantra, Brandimarto Jeffrey, Moravec Christine S, Pulit Sara L, Pfeufer Arne, Mullikin Jim, Ross Mark, Green Eric D, Bentley David, Newton-Cheh Christopher, Boerwinkle Eric, Tomaselli Gordon F, Cappola Thomas P, Arking Dan E, Halushka Marc K, Chakravarti Aravinda

Abstract excerpt

QT interval variation is assumed to arise from variation in repolarization as evidenced from rare Na- and K-channel mutations in Mendelian QT prolongation syndromes. However, in the general population, common noncoding variants at a chromosome 1q locus are the most common genetic regulators of QT interval variation. In this study, we use multiple human genetic, molecular genetic, and cellular assays to identify a...

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Identifiers

PMID: 24857694
DOI: 10.1016/j.ajhg.2014.05.001
PMCID: PMC4121472

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An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval.PMID 24857694Read ↗

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