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From SNPedia

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
is asnp
is mentioned by
1000 genomesrs2200733
23andMe allrs2200733
SNP Nexus

GWAS Ctlgrs2200733
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.

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

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
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.21875

[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