rs231725

This is a downstream gene variant variant.

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GWAS Catalog Trait Associations (1)

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

Vitiligo

Jin Y et al. “Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.” Nature Genetics 48(11):1418-1424 (2016)
Allele A
OR 1.18
p 1.0e-10
N 40,258
Large GWAS
European
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Research that mentions this SNP (1)

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Carriage of a Tumor Necrosis Factor Polymorphism Amplifies the Cytotoxic T-Lymphocyte Antigen 4 Attributed Risk of Primary Biliary Cirrhosis: Evidence for a Gene–Gene Interaction
AssociationN=1,627Juran BD et al.(2010)· Hepatology

Gene-gene interaction study demonstrating that the TNF rs1800629 A/A or A/G allele amplifies the risk of primary biliary cirrhosis (PBC) conferred by the CTLA4 rs231725 A/A genotype, with a combined interaction odds ratio of 3.98 (95% CI 2.16-7.33, P < 0.0001). Individual SNP analysis showed CTLA4 rs231725 A/A was associated with PBC (OR 1.68, P = 0.0005) and TNF rs1800629 had borderline significance (OR 1.21, P = 0.042).

Traits studied:Primary biliary cirrhosis
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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