|
Brugada Syndrome (disorder)
|
|
0.040 |
GeneticVariation
|
BEFREE |
H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.
|
29202755 |
2017 |
|
Brugada Syndrome (disorder)
|
|
0.040 |
GeneticVariation
|
BEFREE |
Importantly, we also expressed the peptide spanning the H558R polymorphism with 8 additional BrS Na(v)1.5 mutations with reduced currents and demonstrated that the peptide was able to restore significant sodium currents in 4 of them.
|
21840964 |
2011 |
|
Brugada Syndrome (disorder)
|
|
0.040 |
GeneticVariation
|
BEFREE |
The common variant H558R seems to be a genetic modulator of Brugada syndrome among carriers of a SCN5A mutation, in whom the presence of the less common allele G improves the ECG characteristics and clinical phenotype.
|
19549036 |
2009 |
|
Brugada Syndrome (disorder)
|
|
0.040 |
GeneticVariation
|
BEFREE |
The polymorphism of A1673G might be associated with BS and may contribute to a susceptibility to BS in Han Chinese.
|
15161528 |
2004 |
|
Atrial Fibrillation
|
|
0.030 |
GeneticVariation
|
BEFREE |
The composition of genotypes and alleles of 1673 A>G and 3666+69 G>C in the AF group was significantly different from that of the control group (p<0.05).
|
31486511 |
2019 |
|
Atrial Fibrillation
|
|
0.030 |
GeneticVariation
|
BEFREE |
In conclusion, this study provided evidence for the role of the H558R polymorphism of the SCN5A gene in increasing the susceptibility to AF.
|
22117993 |
2011 |
|
Atrial Fibrillation
|
|
0.030 |
GeneticVariation
|
BEFREE |
Genotypes at the AF-associated loci in KCNE1 (S38G) and SCN5A (H558R) were determined by direct DNA sequencing.
|
19305639 |
2009 |
|
Hypertensive disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, statistically significant differences were observed in the composition of the gene polymorphisms 1673 A>G and 3666+69 G>C between patients with and without histories of drinking and hypertension (p<0.05).
|
31486511 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our study demonstrates an association between familial DCM and the rs1805124 polymorphism in the SCN5A gene, which may unravel additional genetic predisposition to the development of a multifactorial disease as DCM.
|
29782370 |
2018 |
|
Cardiomyopathy, Dilated
|
|
0.010 |
GeneticVariation
|
BEFREE |
We examined the possible association between a common polymorphism in the SCN5A gene (c.1673A>G-p.H558R; rs1805124) and the risk of dilated cardiomyopathy (DCM) occurrence.
|
29782370 |
2018 |
|
Gitelman Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genetic analysis identified SCN5A H558R polymorphism, which modulates the function of myocardial sodium channel, and SLC12A3 A588V mutation, which causes GS.
|
30305584 |
2018 |
|
Familial dilated cardiomyopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results showed that the rs1805124 polymorphism was significantly associated with DCM, and the association was more significant in patients with FDC; furthermore, in these individuals, the less frequent GG genotype was associated with a 7.39-fold increased risk of disease [95% confidence interval (95% CI) = 2.88-18.96; P < 0.0001] compared with the AA genotype.
|
29782370 |
2018 |
|
Andersen Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Symptoms presented by the member with only the ATS mutation and by member with ATS mutation and H558R polymorphism were not as severe.
|
26109178 |
2016 |
|
Ventricular tachycardia, polymorphic
|
|
0.010 |
GeneticVariation
|
BEFREE |
Proband with ATS mutation, K897T and H558R polymorphisms and proband's sister with ATS mutation and K897T polymorphism presented following symptoms: loss of consciousness, bidirectional and polymorphic ventricular tachycardia and about 5000 ventricular extrasystoles.
|
26109178 |
2016 |
|
Conduction disorder of the heart
|
|
0.010 |
GeneticVariation
|
BEFREE |
An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders.
|
25871451 |
2015 |
|
Complete right bundle branch block
|
|
0.010 |
GeneticVariation
|
BEFREE |
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.
|
25177937 |
2014 |
|
Keshan disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
H558R polymorphism might increase susceptibility to K</span>SD, and SCN5A containing the polymorphism might be a predisposing gene for QRS prolongation.
|
25177937 |
2014 |
|
Sick Sinus Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome.
|
20384651 |
2010 |
|
Isovaleryl-CoA dehydrogenase deficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
For women, patients with IVA had higher allele frequency of c.87G>A than controls (0.455 vs 0.198, p=0.013, odds ratio (OR) 3.382), whereas for men, minor allele c.1673A>G was significantly less prevalent in IVA patients compared with controls (0.025 vs 0.175, p=0.017, OR 0.121).
|
18362431 |
2008 |
|
Premature ventricular contractions
|
|
0.010 |
GeneticVariation
|
BEFREE |
H558R was associated with an increase in QT dispersion (QTd) at minimum and maximum heart rate and QT interval prolongation before premature ventricular beats (PVB), whereas S38G and intronic polymorphisms were related to an increase in QTd before PVB.
|
18803136 |
2008 |
|
Acquired long QT syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
The frequency of three common nonsynonymous coding region polymorphisms was no different between aLQTS and control subjects, as follows: 24% versus 19% for H558R (SCN5A), 3% versus 3% for R34C (SCN5A), and 14% versus 14% for K897T (HERG).
|
11997281 |
2002 |