rs7193343

This is a regulatory region variant variant in the ZFHX3 gene.

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GWAS Catalog Trait Associations (2)

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

atrial fibrillation

Gudbjartsson DF et al. “A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke.” Nature Genetics 41(8):876-8 (2009)

Allele T

OR 1.21

p 1.0e-10

N 36,137

Large GWAS

multi-ancestry

Ischemic stroke, cardiac embolism

“Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study.” The Lancet. Neurology 15(2):174-184 (2016)

Allele T

OR 1.17

p 2.0e-10

N 36,199

Large GWAS

multi-ancestry

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Research that mentions this SNP (1)

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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

PubMed DOI Metascience 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]