rs719149
This is a regulatory region variant variant in the TNFAIP3 gene.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Association of single‐nucleotide polymorphisms in CCR6, TAGAP, and TNFAIP3 with rheumatoid arthritis in African AmericansAssociationN=1,179Perkins EA et al.(2012)· Arthritis & Rheumatism
This case-control study of 446 African-American RA patients and 733 controls identified three SNPs significantly associated with rheumatoid arthritis: TNFAIP3 rs719149 (A allele OR 1.22, p=0.02), TAGAP rs1738074 (G allele OR 0.75, p=0.0012), and TAGAP rs4709267 (G allele OR 0.74, p=0.004). Conditional analyses suggest the two TAGAP SNPs have independent effects despite weak linkage disequilibrium (R²=0.034).
▶Association of TNFAIP3 polymorphism with rheumatic heart disease in Chinese Han populationAssociationN=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.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…