rs582757

This variant is located in the TNFAIP3 gene.

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GWAS Catalog Trait Associations (4)

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

psoriasis

Tsoi LC et al. “Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.” Nature Genetics 44(12):1341-8 (2012)
Allele C
OR 1.23
p 2.0e-25
N 33,394
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.10
p 1.0e-16
N 631,638
Major Consortium StudyLarge GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.12
p 3.0e-16
N 394,626
Large GWAS
European
Baurecht H et al. “Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.” American Journal of Human Genetics 96(1):104-20 (2015)
Allele C
OR 1.25
p 6.0e-12
N 12,244
Large GWAS
European

psoriasis vulgaris

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 1.0e-14
N 631,875
Major Consortium StudyLarge GWAS
multi-ancestry

neutrophil count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 9.0e-14
N 275,053
Major Consortium StudyLarge GWAS
European

psoriasis, type 2 diabetes mellitus

Patrick MT et al. “Causal Relationship and Shared Genetic Loci between Psoriasis and Type 2 Diabetes through Trans-Disease Meta-Analysis.” The Journal of Investigative Dermatology 141(6):1493-1502 (2021)
Allele C
OR 1.08
p 3.0e-13
N 925,490
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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Association of TNFAIP3 polymorphism with rheumatic heart disease in Chinese Han population
AssociationN=717Rong Hua et al.(2009)· Immunogenetics

A pair-matched case-control study (239 cases, 478 controls) in the Chinese Han population identified rs582757 in the TNFAIP3 gene as associated with reduced risk of rheumatic heart disease (RHD). The minor C allele showed a per-allele odds ratio of 0.57 (95% CI 0.42-0.78, p=0.000) in the additive model and a 0.54-fold reduced risk under the dominant model. No significant associations were found for SNPs in the TRAF1 or C5 genes.

Traits studied:Rheumatic heart disease
PubMedDOIMetascience Observatory
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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies
PubMedDOIMetascience Observatory

About TNFAIP3

This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]

View all TNFAIP3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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