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Article

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?

Circulation. Cardiovascular genetics - 1 Aug 2016

Crotti Lia, Lahtinen Annukka M, Spazzolini Carla, Mastantuono Elisa, Monti Maria Cristina, Morassutto Caterina, Parati Gianfranco, Heradien Marshall, Goosen Althea, Lichtner Peter, Meitinger Thomas, Brink Paul A, Kontula Kimmo, Swan Heikki, Schwartz Peter J

Abstract excerpt

BACKGROUND: Long-QT syndrome is an inherited cardiac channelopathy characterized by delayed repolarization, risk of life-threatening arrhythmia, and significant clinical variability even within families. Three single-nucleotide polymorphisms (SNPs) in the 3' untranslated region of KCNQ1 were recently suggested to be associated with suppressed gene expression and hence decreased disease severity when located on...

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Source

Identifiers

PMID: 27531917
DOI: 10.1161/CIRCGENETICS.116.001419

Genes

KCNQ1

Variants

rs2519184
rs2519184

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?PMID 27531917Read ↗

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