Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

Congenital long QT syndrome (LQTS) is an inherited channelopathy associated with life-threatening arrhythmias. LQTS type 2 (LQT2) is caused by mutations in KCNH2, which encodes the potassium channel hERG. We hypothesized that modifier genes are partly responsible for the variable phenotype severity observed in some LQT2 families. Here, we identified contributors to variable expressivity in an L...

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.

BACKGROUND Considerable interest exists in the identification of genetic modifiers of disease severity in the long-QT syndrome (LQTS) as their identification may contribute to refinement of risk stratification. METHODS AND RESULTS We searched for single-nucleotide polymorphisms (SNPs) that modulate the corrected QT (QTc)-interval and the occurrence of cardiac events in 639 patients harboring ...

Genetic Modifiers for the Long-QT Syndrome

The long-QT syndrome (LQTS), probably the best-known genetic disorder causing life-threatening arrhythmias, has become a useful paradigm to study sudden cardiac death in the young. An intriguing feature of LQTS is its incomplete penetrance and variable expressivity which are commonly observed even among members of the same family, all carriers of the same mutation. There is a consensus that thi...

Analysis for Genetic Modifiers of Disease Severity in Patients with Long QT Syndrome Type 2 Running title

Genotype and severity of long QT syndrome.

OBJECTIVES To describe the state of the art of our understanding of the long QT syndromes and to provide the genetic correlation of clinical severity of patients with this disorder. DATE SOURCES In this review, we outline data that were obtained from work in our laboratory, as well as information reported in the literature. STUDY SELECTION The information in this review spans the last decad...