{{Rsnum
|rsid=2200733
|Gene=LOC729065
|Chromosome=4
|position=110789013
|Orientation=plus
|GMAF=0.2709
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 78.8 | 19.5 | 1.8
| HCB | 27.0 | 52.6 | 20.4
| JPT | 30.1 | 46.0 | 23.9
| YRI | 55.8 | 37.4 | 6.8
| ASW | 50.9 | 47.4 | 1.8
| CHB | 27.0 | 52.6 | 20.4
| CHD | 23.9 | 45.9 | 30.3
| GIH | 75.2 | 21.8 | 3.0
| LWK | 66.4 | 30.9 | 2.7
| MEX | 55.2 | 41.4 | 3.4
| MKK | 75.6 | 19.9 | 4.5
| TSI | 67.6 | 30.4 | 2.0
| HapMapRevision=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|OA=1
}} [[rs2200733]] and [[rs10033464]] are strongly associated with AF in four cohorts of European descent. 

{{PMID|21414601|OA=1
}} 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|OA=1
}} [[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.

[http://thegenesherpa.blogspot.com/2009/06/rs2200733-ok-now-what.html genesherpa] does a blog post about this snp

{{GWAS Summary
|SNP=rs2200733
|PubMedID=17603472
|Condition=Atrial fibrillation/atrial flutter
|Gene=PITX2,ENPEP
|Risk Allele=T
|pValue=3.00E-041
|OR=1.72
|95CI=1.59-1.86
}}

{{omim
|desc=ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5
|id=611494
|rsnum=2200733
}}
{{PMID Auto GWAS
|PMID=19597491
|Trait=Atrial fibrillation
|Title=A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke
|RiskAllele=
|Pval=1E-14
|OR=1.42
|ORtxt=[NR]
|OA=1
}}
{{PMID Auto
|PMID=19707791
|Title=Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population
}}

{{PharmGKB
|RSID=rs2200733
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:20031626
|Annotation=The minor allele of rs2200733 is associated with increased risk for postoperative Atrial Fibrillation. Risk or phenotype-associated allele: minor allele( nucleotide unspecified). Phenotype: increased risk for postoperative Atrial Fibrillation. Study size: Discovery cohort: 959; Validation cohort: 494. Study population/ethnicity: Patients ages 21-90 who underwent Coronary Artery Bypass Graft Surgery at Brigham and Women&apos;s Hospital or at Texas Heart Institute. Significance metrics: OR = 1.97; 95% CI = 1.24-3.15; p = 0.004. Type of association: CO; GN;
|Drugs=
|Drug Classes=
|Diseases=Atrial Fibrillation
|Curation Level=Curated
|PharmGKB Accession ID=PA165111453
}}

{{PMID Auto
|PMID=20733104
|Title=Independent Susceptibility Markers for Atrial Fibrillation on Chromosome 4q25
|OA=1
}}

{{PharmGKB
|RSID=rs2200733
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17603472; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Variants conferring risk of atrial fibrillation on chromosome 4q25 (Initial Sample Size: 550 cases, 4,476 controls; Replication Sample Size: 3,363 cases, 17,616 controls; Risk Allele: rs2200733-T). This variant is associated with atrial fibrillation and atrial flutter.
|Drugs=
|Drug Classes=
|Diseases=Atrial Fibrillation; Atrial Flutter
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356665
}}

{{PharmGKB
|RSID=rs2200733
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18991354; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic Stroke. (Initial Sample Size: 1,661 cases, 10,815 controls; Replication Sample Size: 4,576 cases, 19,343 controls); (Region: 4q25; Reported Gene(s): NR; Risk Allele: rs2200733-T); (p-value= 0.0000000002).This variant is associated with Ischemic Stroke.
|Drugs=
|Drug Classes=
|Diseases=Stroke
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740846
}}

{{PMID Auto
|PMID=21574119
|Title=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 Auto
|PMID=21760908
|Title=Association between variants on chromosome 4q25, 16q22 and 1q21 and atrial fibrillation in the Polish population
|OA=1
}}

{{PMID Auto
|PMID=22384221
|Title=Characterization of Genome-Wide Association-Identified Variants for Atrial Fibrillation in African Americans
|OA=1
}}

{{PMID Auto
|PMID=22336519
|Title=Genetic loci on chromosomes 4q25, 7p31, and 12p12 are associated with onset of lone atrial fibrillation before the age of 40 years
}}

{{PMID Auto
|PMID=18224312
|Title=Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
|OA=1
}}

{{PMID Auto
|PMID=19359634
|Title=Update on the genetics of stroke and cerebrovascular disease 2008.
|OA=1
}}

{{PMID Auto
|PMID=19597492
|Title=Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.
|OA=1
}}

{{PMID Auto
|PMID=20170812
|Title=Chromosome 4q25 variants and atrial fibrillation recurrence after catheter ablation.
}}

{{PMID Auto
|PMID=20173747
|Title=Common variants in KCNN3 are associated with lone atrial fibrillation.
|OA=1
}}

{{PMID Auto
|PMID=20335276
|Title=PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.
|OA=1
}}

{{PMID Auto
|PMID=20606429
|Title=Association of RS2200733 but not RS10033464 on 4q25 with atrial fibrillation based on the recessive model in a Taiwanese population.
}}

{{PMID Auto
|PMID=20676228
|Title=Lone AF - etiologic factors and genetic insights into pathophysiolgy.
|OA=1
}}

{{PMID Auto
|PMID=21481830
|Title=Uncovering an intermediate phenotype associated with rs2200733 at 4q25 in lone atrial fibrillation.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2200733
|overall_frequency_n=28
|overall_frequency_d=128
|overall_frequency=0.21875
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=28
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23130627
|Title=Variant rs2200733 on Chromosome 4q25 Confers Increased Risk of Atrial Fibrillation: Evidence From a Meta-Analysis
}}

{{PMID Auto
|PMID=23132824
|Title=Genetic polymorphisms confer risk of atrial fibrillation in patients with heart failure: a population-based study
|OA=1
}}

{{PMID Auto
|PMID=24016508
|Title=African American race but not genome-wide ancestry is negatively associated with atrial fibrillation among postmenopausal women in the Women's Health Initiative
}}

{{PMID Auto
|PMID=24161141
|Title=A Common Variant on Chromosome 4q25 is Associated With Prolonged PR Interval in Subjects With and Without Atrial Fibrillation
|OA=1
}}

{{PMID Auto
|PMID=22818067
|Title=Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation.
|OA=1
}}

{{PMID Auto
|PMID=23178686
|Title=Common atrial fibrillation risk alleles at 4q25 predict recurrence after catheter-based atrial fibrillation ablation.
|OA=1
}}

{{PMID Auto
|PMID=23428961
|Title=Common genetic polymorphism at 4q25 locus predicts atrial fibrillation recurrence after successful cardioversion.
|OA=1
}}

{{PMID Auto
|PMID=24065534
|Title=Rs2200733 and rs10033464 on chromosome 4q25 confer risk of cardioembolic stroke: an updated meta-analysis
}}

{{PMID Auto
|PMID=25020763
|Title=P378Variant rs2200733 on chromosome 4q25 independently confers increased risk of atrial fibrillation in a greek population
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Illumina Human 1M}}