rs1047640 - SP3

Magnitude 2.2 · 1 study on file

Reported associations

  • ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals - Unknown journal (n.d.) · Unknown authors · PubMed 29874175

    ABSTRACT: Supplemental Digital Content is available in the text. Background: QT interval, measured through a standard ECG, captures the time it takes for the cardiac ventricles to depolarize and repolarize. JT interval is the component of the QT interval that reflects ventricular repolarization alone. Prolonged QT interval has been linked to higher risk of sudden cardiac arrest. Methods and Results: We performed an ExomeChip-wide analysis for both QT and JT intervals, including 209 449 variants, both common and rare, in 17 341 genes from the Illumina Infinium HumanExome BeadChip. We identified 10 loci that modulate QT and JT interval duration that have not been previously reported in the literature using single-variant statistical models in a meta-analysis of 95 626 individuals from 23 coh


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • inform prescriber about QT-interval predisposition Moderate

    C allele carriers have genetic predisposition to longer QT interval, which increases susceptibility to drug-induced arrhythmias from QT-prolonging medications

    provide genetic data to healthcare providers when medications are being prescribed

Screening

  • baseline EKG Moderate

    rs1047640 C allele associates with prolonged QT interval; baseline EKG establishes individual QT duration and screens for other cardiac abnormalities

    12-lead EKG; if QT interval > 450 ms (men) or 460 ms (women), discuss with cardiologist