Key result
cLQT copy number variants show no increased prevalence in acquired long QT syndrome versus healthy volunteers.
Why the study?
Does copy number variation in congenital long QT syndrome genes contribute to susceptibility to acquired long QT syndrome?
Population
287 subjects, comprising 197 healthy volunteers and 90 subjects presenting with acquired long QT syndrome
Comparison
Multiplex ligation-dependent probe amplification… vs Healthy volunteers compared to subjects with…
Design
Case-control
Authors
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May support CNV testing in unexplained aLQT; leaves open role in drug susceptibility and needs prospective validation.
Case-Control (n=287)
Does copy number variation in congenital long QT syndrome genes contribute to susceptibility to acquired long QT syndrome?
Absolute Event Rate: 1.1% vs 0.5%
Copy number variation in congenital long QT syndrome genes is a possible additional risk factor for acquired long QT syndrome and may be considered for pharmacogenetic screening.
Williams et al. (2015) conducted a case-control in Acquired long QT syndrome (aLQT) (n=287). Copy number variations (CNVs) in cLQT genes vs. Healthy volunteers was evaluated on Detection of copy number variants (CNVs) in cLQT genes. Copy number variants in cLQT genes were detected in 1 of 90 subjects with acquired long QT syndrome (1.1%) and 1 of 197 healthy volunteers (0.5%).
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