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Corrected QT Interval-Polygenic Risk Score and Its Contribution to Type 1, Type 2, and Type 3 Long-QT Syndrome in Probands and Genotype-Positive Family Members.

Circulation. Genomic and precision medicine - 1 Aug 2020

Turkowski Kari L, Dotzler Steven M, Tester David J, Giudicessi John R, Bos J Martijn, Speziale Ashley D, Vollenweider Jason M, Ackerman Michael J

Abstract excerpt

BACKGROUND: Long-QT syndrome (LQTS) is characterized by a prolonged heart rate-corrected QT interval (QTc). Genome-wide association studies identified common genetic variants that collectively explain ≈8% to 10% of QTc variation in the general population. METHODS: Overall, 423 patients with LQT1, LQT2, or LQT3 were genotyped for 61 QTc-associated genetic variants used in a prototype QTc-polygenic risk score...

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PMID: 32469608
DOI: 10.1161/CIRCGEN.120.002922

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