rs2200733
| Orientation | plus |
| Stabilized | plus |
| 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. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 110789013 |
| Gene | LOC729065 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2200733 |
| dbSNP (classic) | rs2200733 |
| ClinGen | rs2200733 |
| ebi | rs2200733 |
| HLI | rs2200733 |
| Exac | rs2200733 |
| Gnomad | rs2200733 |
| Varsome | rs2200733 |
| LitVar | rs2200733 |
| Map | rs2200733 |
| PheGenI | rs2200733 |
| Biobank | rs2200733 |
| 1000 genomes | rs2200733 |
| hgdp | rs2200733 |
| ensembl | rs2200733 |
| geneview | rs2200733 |
| scholar | rs2200733 |
| rs2200733 | |
| pharmgkb | rs2200733 |
| gwascentral | rs2200733 |
| openSNP | rs2200733 |
| 23andMe | rs2200733 |
| SNPshot | rs2200733 |
| SNPdbe | rs2200733 |
| MSV3d | rs2200733 |
| GWAS Ctlg | rs2200733 |
| GMAF | 0.2709 |
| Max Magnitude | 3 |
| ? | (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 19141561
] rs2200733 and rs10033464 are strongly associated with AF in four cohorts of European descent.
[PMID 21414601] 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 24270849] 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 |
| GWAS snp | |
|---|---|
| PMID | [PMID 19597491]
|
| 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 20733104] 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 21760908] Association between variants on chromosome 4q25, 16q22 and 1q21 and atrial fibrillation in the Polish population
[PMID 22384221] 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 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 19359634] Update on the genetics of stroke and cerebrovascular disease 2008.
[PMID 19597492] 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 20173747] Common variants in KCNN3 are associated with lone atrial fibrillation.
[PMID 20335276] 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 20676228] Lone AF - etiologic factors and genetic insights into pathophysiolgy.
[PMID 21481830] Uncovering an intermediate phenotype associated with rs2200733 at 4q25 in lone atrial fibrillation.
[PMID 23130627] Variant rs2200733 on Chromosome 4q25 Confers Increased Risk of Atrial Fibrillation: Evidence From a Meta-Analysis
[PMID 23132824] 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 24161141] A Common Variant on Chromosome 4q25 is Associated With Prolonged PR Interval in Subjects With and Without Atrial Fibrillation
[PMID 22818067] Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation.
[PMID 23178686] Common atrial fibrillation risk alleles at 4q25 predict recurrence after catheter-based atrial fibrillation ablation.
[PMID 23428961] Common genetic polymorphism at 4q25 locus predicts atrial fibrillation recurrence after successful cardioversion.
[PMID 24065534] 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 26005361] 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 26267381] Molecular Basis of Gene-Gene Interaction: Cyclic Cross-Regulation of Gene Expression and Post-GWAS Gene-Gene Interaction Involved in Atrial Fibrillation
[PMID 28258728] Relation of Obstructive Sleep Apnea and a Common Variant at Chromosome 4q25 to Atrial Fibrillation.
[PMID 29624624] Genetic modulation of atrial fibrillation risk in a Hispanic/Latino cohort.
[PMID 30177054] Atrial fibrillation associated genetic variation near PITX2 gene increases the risk of preeclampsia.
