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rs2200733

From SNPedia

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Geno Mag Summary
(C;C) 1.9 0.86x decreased risk of Atrial Fibrillation
(C;T) 3 1.4x increased risk of Atrial Fibrillation and ischemic stroke.
(T;T) 3 1.5x increased risk of Atrial Fibrillation and ischemic stroke.
ReferenceGRCh38 38.1/141
Chromosome4
Position110789013
GeneLOC729065
is asnp
is mentioned by
dbSNPrs2200733
ebirs2200733
HLIrs2200733
Exacrs2200733
Varsomers2200733
Maprs2200733
PheGenIrs2200733
hapmaprs2200733
1000 genomesrs2200733
hgdprs2200733
ensemblrs2200733
gopubmedrs2200733
geneviewrs2200733
scholarrs2200733
googlers2200733
pharmgkbrs2200733
gwascentralrs2200733
openSNPrs2200733
23andMers2200733
23andMe allrs2200733
SNP Nexus

SNPshotrs2200733
SNPdbers2200733
MSV3drs2200733
GWAS Ctlgrs2200733
GMAF0.2709
Max Magnitude3
? (C;C) (C;T) (T;T) 28
Two SNPs from chromosome 4q25, rs2200733 and rs10033464, were found to be associated with atrial fibrillation in a study of both European and Asian populations. The odds ratio associated with one or more copies of either risk allele was ~1.4x.[PMID 17603472]

[PMID 18931155] The results derived from a study of 78 Italians with atrial fibrillation (AF) and atrial flutter (AFL) agree with previously reported findings from the Icelandic study ([PMID 17603472]), which also found that the rs2200733(T) was associated with AF/AFL disease.

[PMID 18991354] In 1,661 Icelandic ischemic stroke samples and two large European replication sets combined, rs2200733 was associated with cardioembolic stroke (CES) (odds ratio 1.54, p = 8.05 x 10e-9). rs2200733 even showed association to ischemic stroke that was not classified as cardioembolic stroke.

[PMID 19141561OA-icon.png] rs2200733 and rs10033464 are strongly associated with AF in four cohorts of European descent.

[PMID 21414601OA-icon.png] A study of 1,166 Caucasian patients following coronary artery bypass grafting concluded that rs2200733(T) carriers had increased long-term mortality (hazard ratio 1.57, CI: 1.10 - 2.24) and higher risk for postoperative atrial fibrillation (odds ratio 1.41, CI: 1.04 - 1.91).

[PMID 24270849OA-icon.png] rs2200733 was found to be associated with atrial fibrillation based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs.

genesherpa does a blog post about this snp

GWAS
SNP rs2200733
PubMedID [PMID 17603472]
Condition Atrial fibrillation/atrial flutter
Gene PITX2,ENPEP
Risk Allele T
pValue 3.00E-041
OR 1.72
95% CI 1.59-1.86


OMIM611494
DescATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5
Variant
Relatedalso
GWAS snp
PMID [PMID 19597491OA-icon.png]
Trait Atrial fibrillation
Title A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke
Risk Allele
P-val 1E-14
Odds Ratio 1.42 [NR]

[PMID 19707791] Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population



[PMID 20733104OA-icon.png] Independent Susceptibility Markers for Atrial Fibrillation on Chromosome 4q25




[PMID 21574119] The rs2200733 variant on chromosome 4q25 is a risk factor for cardioembolic stroke related to atrial fibrillation in Polish patients

[PMID 21793630] rs2200733(T;T) individuals have a mean PR interval (a risk factor for atrial fibrillation) of 189.5 ± 35.8 ms in comparison to mean PR intervals of 172.0 ± 29.0 and 171.0 ± 27.1 ms for (C;T) and (C;C) genotypes, respectively (p = 0.013 and p = 0.0056), according to this study.


[PMID 21760908OA-icon.png] Association between variants on chromosome 4q25, 16q22 and 1q21 and atrial fibrillation in the Polish population


[PMID 22384221OA-icon.png] Characterization of Genome-Wide Association-Identified Variants for Atrial Fibrillation in African Americans


[PMID 22336519] Genetic loci on chromosomes 4q25, 7p31, and 12p12 are associated with onset of lone atrial fibrillation before the age of 40 years


[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 19359634OA-icon.png] Update on the genetics of stroke and cerebrovascular disease 2008.


[PMID 19597492OA-icon.png] Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.


[PMID 20170812] Chromosome 4q25 variants and atrial fibrillation recurrence after catheter ablation.


[PMID 20173747OA-icon.png] Common variants in KCNN3 are associated with lone atrial fibrillation.


[PMID 20335276OA-icon.png] PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.


[PMID 20606429] Association of RS2200733 but not RS10033464 on 4q25 with atrial fibrillation based on the recessive model in a Taiwanese population.


[PMID 20676228OA-icon.png] Lone AF - etiologic factors and genetic insights into pathophysiolgy.


[PMID 21481830] Uncovering an intermediate phenotype associated with rs2200733 at 4q25 in lone atrial fibrillation.


GET Evidence
rs2200733
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.21875
summary



[PMID 23130627] Variant rs2200733 on Chromosome 4q25 Confers Increased Risk of Atrial Fibrillation: Evidence From a Meta-Analysis


[PMID 23132824OA-icon.png] Genetic polymorphisms confer risk of atrial fibrillation in patients with heart failure: a population-based study


[PMID 24016508] African American race but not genome-wide ancestry is negatively associated with atrial fibrillation among postmenopausal women in the Women's Health Initiative


[PMID 24161141OA-icon.png] A Common Variant on Chromosome 4q25 is Associated With Prolonged PR Interval in Subjects With and Without Atrial Fibrillation


[PMID 22818067OA-icon.png] Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation.


[PMID 23178686OA-icon.png] Common atrial fibrillation risk alleles at 4q25 predict recurrence after catheter-based atrial fibrillation ablation.


[PMID 23428961OA-icon.png] Common genetic polymorphism at 4q25 locus predicts atrial fibrillation recurrence after successful cardioversion.


[PMID 24065534OA-icon.png] Rs2200733 and rs10033464 on chromosome 4q25 confer risk of cardioembolic stroke: an updated meta-analysis


[PMID 25020763] P378Variant rs2200733 on chromosome 4q25 independently confers increased risk of atrial fibrillation in a greek population


[PMID 25494715] Incidence of Dementia in Relation to Genetic Variants at PITX2, ZFHX3, and ApoE ε4 in Atrial Fibrillation Patients


[PMID 25684755] Common Genetic Variants and Response to Atrial Fibrillation Ablation


[PMID 25711478] Association of GWAS-Supported Variants rs2200733 and rs6843082 on Chromosome 4q25 with Ischemic Stroke in the Southern Chinese Han Population


[PMID 26005361OA-icon.png] Association of common variations on chromosome 4q25 and left atrial volume in patients with atrial fibrillation


[PMID 26021244] Association Between rs2200733 Polymorphism on Chromosome 4q25 and Atrial Fibrillation in a Greek Population


[PMID 26267381OA-icon.png] Molecular Basis of Gene-Gene Interaction: Cyclic Cross-Regulation of Gene Expression and Post-GWAS Gene-Gene Interaction Involved in Atrial Fibrillation