rs2106261

This variant is located in the ZFHX3 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele T
OR 0.18
p 2.0e-305
N 2,584,013
Large GWAS
multi-ancestry
Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele T
OR 1.20
p 7.0e-257
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele T
OR 0.04
p 4.0e-88
N 1,486,094
Large GWAS
European
Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)
Allele T
OR 0.04
p 1.0e-90
N 1,030,836
Large GWAS
European
Christophersen IE et al. “Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.” Nature Genetics 49(6):946-952 (2017)
Allele T
OR 1.19
p 4.0e-24
N 118,755
Large GWAS
European
Ellinor PT et al. “Meta-analysis identifies six new susceptibility loci for atrial fibrillation.” Nature Genetics 44(6):670-675 (2012)
Allele T
OR 1.24
p 3.0e-16
N 59,133
Meta-analysisLarge GWAS
European
Benjamin EJ et al. “Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.” Nature Genetics 41(8):879-81 (2009)
Allele T
OR 1.25
p 2.0e-15
N 40,518
Large GWAS
European
Low SK et al. “Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.” Nature Genetics 49(6):953-958 (2017)
Allele T
OR 1.33
p 1.0e-35
N 36,792
Large GWAS
multi-ancestry
Lee JY et al. “Korean atrial fibrillation network genome-wide association study for early-onset atrial fibrillation identifies novel susceptibility loci.” European Heart Journal 38(34):2586-2594 (2017)
Allele T
OR 2.08
p 3.0e-30
N 4,372
Large GWAS
East Asian

cardioembolic stroke

Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)
Allele T
OR 17.48
p 2.0e-68
N 362,661
Large GWAS
European

encounter with health service

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.13
p 3.0e-44
N 441,953
Major Consortium StudyLarge GWAS
European

cardiac arrhythmia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 4.0e-23
N 557,567
Major Consortium StudyLarge GWAS
multi-ancestry

prothrombin time measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.03
p 1.0e-15
N 240,571
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (3)

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Genetic Investigation Into the Differential Risk of Atrial Fibrillation Among Black and White Individuals
AssociationN=17,325Jason D. Roberts et al.(2016)· JAMA Cardiology

This genome-wide admixture analysis of three population-based cohorts (CHS, ARIC, Health ABC; n=17,325) investigated whether 9 known atrial fibrillation (AF) SNPs explain the paradoxically higher AF risk in Whites compared to Blacks. Using Cox proportional hazards models, rs10824026 (in SYNPO2L/MYOZ1) significantly mediated 11.4% (95% CI 2.9-29.9%) and 31.7% (95% CI 16.0-53.0%) of the excess AF risk in Whites in CHS and ARIC respectively. Admixture mapping across 4,938 Black participants identified no loci reaching genome-wide significance (p<7×10⁻⁶), suggesting the racial differential in AF risk is driven by multiple genetic and/or environmental factors rather than single variants.

Traits studied:Atrial fibrillation
PubMedDOIMetascience Observatory
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BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3
AssociationN=5,792Xin Xiong et al.(2014)· Human Genetics

This case-control association study of 5,792 Chinese Han subjects (2,283 ischemic stroke cases, 3,509 controls) found that rs1122608 in the BRG1/SMARCA4 gene on chromosome 19p13.2 confers protection against ischemic stroke (combined OR 0.73, P adj = 7.86 × 10-5). The protective allele T is associated with increased expression of SFRS3, a splicing factor that may regulate IL-1β expression and reduce atherosclerosis risk.

Traits studied:Coronary artery diseaseIschemic strokeTotal cholesterol
PubMedDOIMetascience Observatory
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Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population
AssociationN=2,097Cong Li et al.(2011)· Human Genetics

Case-control association study of 650 Chinese Han AF patients and 1,447 controls identified significant association between rs2106261 in ZFHX3 and atrial fibrillation (OR=1.32, P=0.001 for allelic frequencies; OR=1.77, P=0.00018 for recessive model). Two other SNPs tested (rs7193343 in ZFHX3 and rs13376333 in KCNN3) showed no association, suggesting population-specific genetic architecture at the 16q22 locus.

Traits studied:Atrial fibrillationLone atrial fibrillation
PubMedDOIMetascience Observatory

About ZFHX3

This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

View all ZFHX3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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