|
rs1042714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
beta1AR (Ser49Gly, Arg389Gly) and beta2AR (Gly16Arg, Gln27Glu) SNPs were genotyped in a case-control study comparing 107 patients with CAD and aborted SCD due to VA with 287 CAD control subjects and 101 healthy control subjects.
|
18534365 |
2008 |
|
rs104894503
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thickness and clinical markers of sudden cardiac death in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene.
|
14734051 |
2004 |
|
rs104894580
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Evaluation of candidate loci culminated in the identification of a heterozygous missense mutation (R67W) in KCNJ2, the gene encoding the inward-rectifying potassium current, Kir2.1, in 41 members of a kindred in which ventricular arrhythmias (13 of 16 female members [81%]) and periodic paralysis (10 of 25 male members [40%]) segregated as autosomal dominant traits with sex-specific variable expressivity.
|
12148092 |
2002 |
|
rs104894584
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study investigated mechanisms by which the Kir2.1 D172N mutation facilitates and perpetuates ventricular arrhythmias.
|
22308236 |
2012 |
|
rs1049194905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The association study identified a statistically significant difference in genotype frequency of KCNH2: c.1539C>T and KCNH2: c.1467C>T between the AMI and AMI_VA groups.
|
31751991 |
2020 |
|
rs120074187
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs120074192
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the KCNQ1 S140G mutation can induce ventricular arrhythmia and lessen ventricular contractility under re-entrant conditions.
|
30108508 |
2018 |
|
rs121918600
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Atrial overdrive pacing completely prevented VA in 16 of 19 (84%) Casq2(-/-) and in 7 of 8 (88%) RyR2(R4496C/+) mice and significantly reduced ventricular premature beats in both CPVT models (P<0.05).
|
23295832 |
2013 |
|
rs121918604
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three RyR2 missense mutations, P2328S, Q4201R, and V4653F, which occur in Finnish families, result in similar mortality rates of approximately 33% by age 35 years and a threshold heart rate of 130 bpm, above which exercise induces ventricular arrhythmias.
|
15197150 |
2004 |
|
rs1237080661
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The association study identified a statistically significant difference in genotype frequency of KCNH2: c.1539C>T and KCNH2: c.1467C>T between the AMI and AMI_VA groups.
|
31751991 |
2020 |
|
rs1266360671
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This is the first mechanistic evidence that increased PLN inhibition may impact both SR Ca(2+) uptake and Ca(2+) release activities and suggests that the human R25C-PLN may be a prognostic factor for increased ventricular arrhythmia risk in DCM carriers.
|
25852082 |
2015 |
|
rs1355262401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In heterozygous mice with S282 gene substituted with alanine (S282A), we found ventricular arrhythmias with inhibition of Cx43 phosphorylation at both S282 and S279 in the hearts.
|
30981509 |
2019 |
|
rs137854600
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The surviving infant was found to have a heterozygous mutation in SCN5A (R1623Q), previously reported as a de novo mutation causing neonatal ventricular arrhythmia and LQTS.
|
15184283 |
2004 |
|
rs1554108172
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1801253
|
|
|
0.010 |
GeneticVariation |
BEFREE |
beta1AR (Ser49Gly, Arg389Gly) and beta2AR (Gly16Arg, Gln27Glu) SNPs were genotyped in a case-control study comparing 107 patients with CAD and aborted SCD due to VA with 287 CAD control subjects and 101 healthy control subjects.
|
18534365 |
2008 |
|
rs1805120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The association study identified a statistically significant difference in genotype frequency of KCNH2: c.1539C>T and KCNH2: c.1467C>T between the AMI and AMI_VA groups.
|
31751991 |
2020 |
|
rs1805127
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with KCNE1(G38S) could have similar potential risk of ventricular arrhythmia as with LQTS.
|
26520166 |
2016 |
|
rs184934308
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, 2 rare variants (KCNQ1: c.1944C>T and SCN5A: c.3621C>T) showed an elevated allelic frequency (more than 1.5-fold) in the AMI_VA group when compared to the AMI group.
|
31751991 |
2020 |
|
rs1860561
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Prevalence of ATP2A2 rs1860561 variant was 17% in patients without VT/VF and 4% in those with ventricular arrhythmia (p = 0.009).
|
24048583 |
2013 |
|
rs192749597
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a loss-of-function variant, Ca<sub>v</sub>α<sub>1c</sub>-T1787M, present in 0.8% of the African population, as a new risk factor for ventricular arrhythmia.
|
30279520 |
2018 |
|
rs199473605
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study supports the concept that febrile illness predisposes individuals who carry a loss of function SCN5A mutation, such as V1340I, to fever-induced ventricular arrhythmias in BrS by significantly reducing the sodium currents in the hyperthermic state.
|
19648062 |
2009 |
|
rs201698592
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, 2 rare variants (KCNQ1: c.1944C>T and SCN5A: c.3621C>T) showed an elevated allelic frequency (more than 1.5-fold) in the AMI_VA group when compared to the AMI group.
|
31751991 |
2020 |
|
rs3745297
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The histidine-rich calcium-binding protein (HRC) Ser96Ala variant has previously been identified as a potential biomarker for ventricular arrhythmias and sudden cardiac death in patients with idiopathic dilated cardiomyopathy.
|
28859293 |
2017 |
|
rs3745297
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The common Ser96Ala human genetic variant of HRC strongly correlates with life-threatening ventricular arrhythmias in patients with idiopathic dilated cardiomyopathy.
|
28784772 |
2017 |
|
rs3745297
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The Ser96Ala genetic variant of HRC is associated with life-threatening ventricular arrhythmias in idiopathic DCM and may serve as an independent predictor of susceptibility to arrhythmogenesis in the setting of DCM.
|
18617481 |
2008 |