rs2014300

This is a intron variant variant in the RUNX1 gene.

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GWAS Catalog Trait Associations (2)

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

esophageal carcinoma

Wu C et al. “Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.” Nature Genetics 43(7):679-84 (2011)

Allele G

OR 1.43

p 8.0e-22

N 4,075

Large GWAS

East Asian

esophageal squamous cell carcinoma

Wu C et al. “Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.” Nature Genetics 46(9):1001-1006 (2014)

Allele G

OR 1.28

p 8.0e-9

N 11,124

Large GWAS

East Asian

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Research that mentions this SNP (1)

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Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese population

AssociationN=4,412Yong Gao et al.(2013)· Human Genetics

A case-control study of 2,139 esophageal squamous cell carcinoma (ESCC) cases and 2,273 controls in a Chinese population examined six SNPs previously associated with upper aerodigestive tract cancers in Europeans. Four SNPs showed significant association with ESCC risk: rs1494961 at 4q21 (OR=1.15, 95% CI=1.05-1.26), rs1229984 in ADH1B at 4q23 (OR=1.24, 95% CI=1.13-1.36), rs1789924 near ADH1C at 4q23 (OR=1.20, 95% CI=1.03-1.39), and rs671 in ALDH2 at 12q24 (OR=0.83, 95% CI=0.75-0.91). Combined analysis showed significant allele-dosage effects with individuals carrying 5+ risk alleles having 1.76-fold increased ESCC risk.

Traits studied:Esophageal squamous cell carcinomaUpper aerodigestive tract cancers

PubMed DOI Metascience Observatory

About RUNX1

Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]