rs12926702

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GWAS Catalog Trait Associations (1)

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

level of serine protease 53 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.30
p 8.0e-76
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Identification of an Association of TNFAIP3 Polymorphisms With Matrix Metalloproteinase Expression in Fibroblasts in an Integrative Study of Systemic Sclerosis–Associated Genetic and Environmental Factors
FunctionalN=183Peng Wei et al.(2016)· Arthritis &amp; Rheumatology

This functional genetic study examined 183 fibroblast strains from systemic sclerosis (SSc) patients and controls to identify SNP-trait associations with extracellular matrix gene expression in response to silica stimulation. SNP rs58905141 in TNFAIP3 (6q23.3) was consistently associated with MMP3 and MMP1 dose-response expression with 3.6 to 12.7-fold changes, remaining genome-wide significant in meta-analysis across Caucasian, African American, and Hispanic cohorts. Two other SSc-associated loci, IL2RA and ITGAM, also showed significant associations with MMP expression in silica-stimulated fibroblasts.

Traits studied:Extracellular matrix gene expressionMMP1 expression in fibroblastsMMP3 expression in fibroblastsSilica-induced fibrotic responseSystemic sclerosis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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