1. H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients
- Author
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J. Cui, H.W. Liu, S. Jiang, D.Q. Chen, Q. Dong, H. Cheng, C. Shu, Hui Li, Fenglan Li, H.X. Ma, and C.F. Fang
- Subjects
Male ,China ,medicine.medical_specialty ,Genotype ,DNA Mutational Analysis ,Cardiomyopathy ,Blood Pressure ,Polymerase Chain Reaction ,QT interval ,NAV1.5 Voltage-Gated Sodium Channel ,Cohort Studies ,Electrocardiography ,QRS complex ,Gene Frequency ,Heart Rate ,Risk Factors ,Internal medicine ,Keshan disease ,Enterovirus Infections ,Odds Ratio ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,cardiovascular diseases ,PR interval ,Molecular Biology ,Polymorphism, Single-Stranded Conformational ,Aged ,Polymorphism, Genetic ,business.industry ,Exons ,General Medicine ,Odds ratio ,Middle Aged ,medicine.disease ,Confidence interval ,Blood pressure ,Cardiology ,Female ,Cardiomyopathies ,business - 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.
- Published
- 2014