H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients

Abstract

ABSTRACT. Keshan disease (KSD), a potentially fatal cardiomyopathy, has very high incidence in some selenium-poor regions of China. KSD may be accompanied with a variety of arrhythmia, which is associated with mutations in the gene coding for cardiac voltage-gated sodium channel (SCN5A). The molecular mechanism of KSD is still largely obscure. We aimed to determine the association between the H558R polymorphism of SCN5A and KSD. We recruited 71 patients with KSD and 80 geographical region-matched control subjects in our study. Vital sign and electrocardiographic (ECG) measurements were performed for heart rate, systolic pressure, diastolic pressure, PR interval, QT interval, QRS duration, ST-T changes and complete right bundle branch block (CRBBB), and H558R polymorphism was genotyped using the polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) method and sequencing. A significant association was found between the H558R polymorphism of exon 12 and KSD. Allele C carriers had a decreased risk for KSD with an odds ratio of 0.332 [95% confidence interval (CI), 0.160-0.692] as well as for QRS prolongation in KSD patients with an odds ratio of 0.089 (95%CI, 0.022-0.361). Our results provide support to the association between H558R polymorphism and the decreased risk for KSD. H558R polymorphism might increase susceptibility to KSD, and SCN5A containing the polymorphism might be a predisposing gene for QRS prolongation.

Malezya'daki Malaylar Arasında İrritabl Bağırsak Sendromu (IBS) ile ilişkili Tek Nükleotid Polimorfizmlerinin Genotip ve Alel Frekansları

“…Tables 3 and 4 3. The polymorphisms of rs5433 and rs1805124 were also been documented to have significant correlations with the etiology of pathophysiology and clinical manifestations of functional dyspepsia (12,13,23), obesity (11,21,25), atrial fibrillation (26-28), sudden cardiac death (29)(30)(31) and many more. Due to the concern in the increasing cases of critical medicinal illnesses including the IBS, the SNP genotyping study is crucial to predict the DNA risk in the ethnic and find proper solutions for the health management and treatment inter-individually.…”