rs1250552

This variant is located in the ZMIZ1 gene.

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GWAS Catalog Trait Associations (4)

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

celiac disease

Trynka G et al. “Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.” Nature Genetics 43(12):1193-201 (2011)
Allele A
OR 1.16
p 8.0e-17
N 24,269
Large GWAS
multi-ancestry

lymphotactin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.03
p 1.0e-13
N 47,745
Large GWAS
European

interleukin-22 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 1.0e-11
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic variants associated with celiac disease and the risk for coronary artery disease
Meta-analysisN=86,995Henning Jansen et al.(2015)· Molecular Genetics and Genomics

This meta-analysis of 22,233 CAD cases and 64,762 controls tested 41 celiac disease-associated SNPs for association with coronary artery disease (CAD). While 58.5% of celiac disease risk alleles showed positive association with CAD (OR 1.001-1.081), this was not significantly different from the 50% expected by chance (p=0.069). Only rs653178 at the SH2B3/ATXN2 locus achieved study-wide statistical significance (OR 1.081, p=2.2×10⁻⁶), likely through pleiotropic effects. The findings provide no convincing evidence that genetic variants associated with celiac disease contribute to CAD risk.

Traits studied:Celiac diseaseCoronary artery disease
PubMedDOIMetascience Observatory

About ZMIZ1

This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]

View all ZMIZ1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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