|
rs120074187
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1554108172
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs766265889
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs7626962
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our study shows that mutation S1103Y does exist in the white population, and it is associated with a considerable risk of syncope, ventricular arrhythmia, ventricular fibrillation, and sudden death in this population.
|
12471205 |
2002 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs5443
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multivariate analysis revealed that the C825T polymorphism (P = 0.004), left ventricular ejection fraction (P = 0.009), and QRS-duration (P = 0.039) were independent determinants of severe ventricular arrhythmias.
|
16783490 |
2006 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs794728708
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Surface ECGs in 3- to 10-day-old mice showed that R176Q/+ mice developed more ventricular arrhythmias after provocation with epinephrine and caffeine.
|
20009080 |
2009 |
|
rs3766871
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, the A allele of rs3766871 in RYR2 not only associates with ventricular arrhythmias, but also serves as an independent predictor of sudden cardiac death, and the A allele of rs790896 in RYR2 is a protective factor against sudden cardiac death in patients with CHF.
|
20408814 |
2010 |
|
rs56984562
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that the LMNA R541C mutation should be considered not only in patients with malignant ventricular arrhythmia and LV local wall motion abnormalities, but also in classic dilated cardiomyopathy with profound segmental LV contractility defects.
|
19167105 |
2010 |
|
rs3745297
|
|
|
0.050 |
GeneticVariation |
BEFREE |
These findings indicate that the HRC Ser96Ala variant increases the propensity of arrhythmogenic Ca(2+) waves in the stressed failing heart, suggesting a link between this genetic variant and life-threatening ventricular arrhythmias in human carriers.
|
21742996 |
2011 |
|
rs7626962
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This is the first report that the S1103Y variant is associated with a higher incidence of ventricular arrhythmias in blacks with heart failure and reduced ejection fraction.
|
21498565 |
2011 |
|
rs765835441
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The surviving carriers of these mutations exhibited only minor, if any structural abnormalities, and two carriers of R3570W showed ventricular arrhythmias predominantly at rest.
|
19781797 |
2011 |
|
rs104894584
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study investigated mechanisms by which the Kir2.1 D172N mutation facilitates and perpetuates ventricular arrhythmias.
|
22308236 |
2012 |
|
rs3745297
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A human genetic variant (Ser96Ala) in the sarcoplasmic reticulum (SR) histidine-rich Ca(2+)-binding (HRC) protein has been linked to ventricular arrhythmia and sudden death in dilated cardiomyopathy.
|
24125847 |
2013 |
|
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 |
|
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 |
|
rs3766871
|
|
|
0.020 |
GeneticVariation |
BEFREE |
RyR2 Common Gene Variant G1886S and the Risk of Ventricular Arrhythmias in ICD Patients with Heart Failure.
|
25773045 |
2015 |
|
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 |