rs3903239

badMag 4.5

This is a intron variant variant in the PRRX1 gene.

Key Literature Trait Associations

Atrial Fibrillation

rs3903239 on chromosome 1q24 maps approximately 63 kb upstream of PRRX1, encoding a homeodomain transcription factor highly expressed in the developing heart. In a meta-analysis of 6,707 AF cases and 52,426 controls of European ancestry, the G allele was associated with increased AF risk (OR = 1.14, P = 8.4 × 10⁻¹⁴). Functional studies show the risk haplotype disrupts an upstream enhancer, reducing PRRX1 expression ~1.7-fold in human left atrial tissue, creating a pro-arrhythmic substrate.

Ellinor PT et al. “Meta-analysis identifies six new susceptibility loci for atrial fibrillation.” Nature Genetics 44(6):670-675 (2012)

Allele G

OR 1.14

p 8.4e-14

Meta-analysis

Wu L et al. “Association between ZFHX3 and PRRX1 Polymorphisms and Atrial Fibrillation Susceptibility from Meta-Analysis.” International Journal of Hypertension (2021)

Allele G

OR 0.83

p 3.6e-2

N 2,452

Meta-analysis

multi-ancestry

Liu Y et al. “The rs3807989 G/A polymorphism in CAV1 is associated with the risk of atrial fibrillation in Chinese Han populations.” Pacing and Clinical Electrophysiology : Pace (2015)

Allele G

OR —

p —

N 1,593

Preliminary work

East Asian

Kalinderi K et al. “PRRX1 Rs3903239 polymorphism and atrial fibrillation in a Greek population.” Hellenic Journal of Cardiology : Hjc = Hellenike Kardiologike Epitheorese (2018)

Allele G

OR —

p —

Candidate gene study

European

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GWAS Catalog Trait Associations (1)

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

atrial fibrillation

Ellinor PT et al. “Meta-analysis identifies six new susceptibility loci for atrial fibrillation.” Nature Genetics 44(6):670-675 (2012)

Allele G

OR 1.14

p 8.0e-14

N 59,133

Meta-analysisLarge GWAS

European

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Research that mentions this SNP (1)

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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.

rs3903239

Key Literature Trait Associations

Atrial Fibrillation

GWAS Catalog Trait Associations (1)

atrial fibrillation

Research that mentions this SNP (1)

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