Zimmerman Laband syndrome
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels.
|
31155282 |
2019 |
Zimmerman Laband syndrome
|
0.510 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels.
|
31155282 |
2019 |
Zimmerman Laband syndrome
|
0.510 |
GermlineCausalMutation
|
disease |
ORPHANET |
Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels.
|
31155282 |
2019 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rs13376333 on chromosome 1q21 (in KCNN3), rs7193343 and rs2106261 on chromosome 16q22 (in ZFHX3) were not associated with AF recurrence in our meta-analysis.
|
31169720 |
2019 |
Atrial Fibrillation
|
0.500 |
Biomarker
|
disease |
CTD_human |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.
|
29290336 |
2018 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Multi-ethnic genome-wide association study for atrial fibrillation.
|
29892015 |
2018 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.
|
28416818 |
2017 |
Atrial Fibrillation
|
0.500 |
Biomarker
|
disease |
BEFREE |
Previous studies have suggested PITX2, KCNN3 and ZFHX3 as atrial fibrillation (AF) susceptibility genes.
|
28381281 |
2017 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Common single nucleotide polymorphisms (SNPs) at chromosomes 4q25 (rs2200733, rs10033464 near PITX2), 1q21 (rs13376333 in KCNN3), and 16q22 (rs7193343 in ZFHX3) have consistently been associated with the risk of atrial fibrillation (AF).
|
25684755 |
2015 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The SNPs at the PITX2 and ZFHX3 loci, but not the KCNN3 locus, were significantly associated with AF (PITX2/rs6843082_G: odds ratio 3.41, 95% CI 2.55 to 4.55, P=1.32×10(-16); PITX2/rs2200733_T: odds ratio 2.05, 95% CI 1.66 to 2.53, P=2.20×10(-11); ZFHX3/rs2106261_A: odds ratio 2.33, 95% CI 1.87 to 2.91, P=3.75×10(-14); KCNN3/rs13376333_T: odds ratio 1.74, 95% CI 0.93 to 3.25, P=0.085).
|
26272656 |
2015 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No evidence of publication bias was found.This meta-analysis suggests that KCNN3 SNP rs13376333 polymorphism significantly increases the risk of lone AF and total AF, which suggests the rs13376333 polymorphism of the KCNN3 gene may play an important role in the pathogenesis of AF.
|
26370375 |
2015 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies (GWAS) have identified common variants in nine genomic regions associated with AF (KCNN3, PRRX1, PITX2, WNT8A, CAV1, C9orf3, SYNE2, HCN4 and ZFHX3 genes); however, the genetic variability of these risk variants does not explain the entire genetic susceptibility to AF.
|
25391453 |
2015 |
Atrial Fibrillation
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The analyses in peripheral blood showed association between AF risk SNPs and decreased expression of KCNN3 (0.85-fold; p=2.1×10(-4)); and increased expression of SYNE2 (1.12-fold; p=7.5×10(-24)); however, these associations were not detectable in atrial tissue.
|
26073630 |
2015 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Participants were genotyped for common AF susceptibility alleles at chromosomes 4q25 (near PITX2), 16q22 (in ZFHX3), and 1q21 (in KCNN3), and common SNPs in the β1-adrenergic receptor (ARDB1).
|
24910551 |
2014 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association between SNP rs13376333 and rs1131820 in the KCNN3 gene and atrial fibrillation in the Chinese Han population.
|
24978901 |
2014 |
Atrial Fibrillation
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
To evaluate the changes in atrial myocardial microRNAs in patients with permanent AF and to determine the role of microRNA on the regulation of cardiac SK3 expression.
|
23499625 |
2013 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The 3 loci most strongly associated with AF occur at chromosome 4q25 (near PITX2), 16q22 (in ZFHX3), and 1q21 (in KCNN3).
|
23428961 |
2013 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
|
22544366 |
2012 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent genome-wide association studies have identified 3 loci, on chromosomes 4q25 (near PITX2), 16q22 (in ZFHX3), and 1q21 (in KCNN3), that associate with either typical or lone AF.
|
22726630 |
2012 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Significant association of rs13376333 in KCNN3 on chromosome 1q21 with atrial fibrillation in a Taiwanese population.
|
22019810 |
2012 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
|
22544366 |
2012 |
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found one known exonic synonymous SNP (rs1131820) in KCNN3 that was associated with AF.
|
21398315 |
2011 |
Atrial Fibrillation
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here, we studied a Chinese Han, GeneID cohort consisting of 650 AF patients and 1,447 non-AF controls to test whether the GWAS findings on ZFHX3/KCNN3 and AF can be expanded to a different ethnic population.
|
21107608 |
2011 |