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

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...

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Veröffentlicht in:	Circulation. Cardiovascular genetics 2016-08, Vol.9 (4), p.330-339
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	3' Untranslated Regions Europe Female Gene Frequency Genes, Modifier Genetic Association Studies Genetic Predisposition to Disease Haplotypes Heredity Humans KCNQ1 Potassium Channel - genetics Linkage Disequilibrium Male Pedigree Phenotype Polymorphism, Single Nucleotide Risk Factors Romano-Ward Syndrome - diagnosis Romano-Ward Syndrome - genetics Romano-Ward Syndrome - physiopathology Severity of Illness Index South Africa
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