rs4265380

This variant is located in the RUNX3 gene.

▶

GWAS Catalog Trait Associations (2)

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

level of serum globulin type protein

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele T

OR 0.04

p 1.0e-66

N 325,292

Major Consortium StudyLarge GWAS

multi-ancestry

blood protein amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele T

OR 0.03

p 8.0e-42

N 325,292

Major Consortium StudyLarge GWAS

multi-ancestry

▶

Research that mentions this SNP (1)

▶

Replication study and meta-analysis indicate a suggestive association of RUNX3 locus with primary biliary cholangitis

Meta-analysisN=9,794Jawed R. et al.(2020)· Immunogenetics

This replication and meta-analysis study examined the association between the RUNX3 locus and primary biliary cholangitis (PBC) in Han Chinese. The tag SNP rs7529070 showed suggestive association with PBC in a meta-analysis of 2553 cases and 7241 controls (p = 1.7 × 10⁻⁴, OR = 1.18, 95% CI = 1.08-1.28). Rs7529070 was in complete linkage disequilibrium with rs4648889, which is known to regulate RUNX3 expression. The study also demonstrated significantly increased RUNX3 expression in PBC patients compared to controls and in a PBC mouse model, suggesting increased RUNX3 expression may promote PBC pathogenesis.

Traits studied:Primary biliary cholangitisPrimary biliary cirrhosis

PubMed DOI Metascience Observatory

About RUNX3

This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]