作者
Yanushi Dullewe Wijeyeratne, Martina Muggenthaler, Michael W Tanck, Jean-Jacques Schott, Florence Kyndt, Vincent Probst, Martin Borggrefe, Pascal McKeown, Christian Veltmann, Lia Crotti, Peter Schwartz, Sanjay Sharma, Naomasa Makita, Dan Roden, Elijah R Behr
发表日期
2014/6/1
期刊
Heart
卷号
100
期号
Suppl 3
页码范围
A94-A94
出版商
BMJ Publishing Group Ltd and British Cardiovascular Society
简介
Introduction
Long QT syndrome (LQTS) and Brugada syndrome (BrS) are inherited arrhythmia syndromes characterised by sudden death and highly variable penetrance. The E1784K mutation in SCN5A, which encodes the α-subunit of the cardiac sodium channel Nav1.5, is the most commonly identified SCN5A mutation in both conditions. It causes a LQTS/BrS overlap disease with variable phenotype. The aim of this project was to identify potential genetic modifiers that may influence the E1784K phenotypic expression in an international cohort of carriers of this mutation.
Methods
88 E1784K mutation carriers from 14 families were genotyped for 48 single nucleotide polymorphisms (SNPs). The chosen SNPs associate with different electrocardiographic (ECG) traits in the general population in large genome wide association studies. Association with PR interval, QRS duration, QTc interval, BrS phenotype …
学术搜索中的文章
YD Wijeyeratne, M Muggenthaler, MW Tanck, JJ Schott… - Heart, 2014