|(G;G)||2.1||1.4x risk of rheumatoid arthritis|
|(G;T)||2||1.4x higher risk for rheumatoid arthritis|
|(T;T)||0||common in complete genomics|
rs2230926, also known as c.380T>G, p.Phe127Cys and F127C, is a SNP in the TNFAIP3 gene on chromosome 6. The tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene encodes the A20 protein, a key molecule in numerous immunologic and other processes due to it's role in controlling NF-κB activation.
In Sjögren's syndrome patients, the rs2230926(G) allele more than doubles the risk of primary Sjogren's Syndrome-associated Non-Hodgkin Lymphoma, according to a study which replicated the initial report in both UK and French patient cohorts of ~500 patients. The meta-analysis of the UK and French cohorts confirmed the initial finding, with odds ratios of 2.48 (CI: 1.87 - 3.28, p=0.0037) and 2.60, (CI: 1.91 - 3.53, p=0.0031), respectively.[PMID 26338037]
[PMID 19774492] A single-nucleotide polymorphism of the TNFAIP3 gene is associated with systemic lupus erythematosus in Chinese Han population
|Trait||Systemic lupus erythematosus|
|Title||Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus|
|Odds Ratio||1.72 [1.52-1.94]|
[PMID 20112363] The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the Japanese population
|Title||A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility|
|Odds Ratio||1.31 [1.17-1.46]|
[PMID 20617138] Association of TNFAIP3 Polymorphism with Susceptibility to Systemic Lupus Erythematosus in a Japanese Population
[PMID 21208380] The association between BANK1 and TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis
[PMID 19165918] Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
[PMID 19169254] Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
[PMID 19387456] Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations.
[PMID 19417005] Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23.
[PMID 19439038] Complex genetic association of 6q23 with autoimmune rheumatic conditions.
[PMID 20169177] Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.
[PMID 21326317] Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases.
[PMID 22113471] TNFAIP3 gene polymorphisms are associated with response to TNF blockade in psoriasis.
[PMID 22402800] Associations between TNFAIP3 gene polymorphisms and rheumatoid arthritis: a meta-analysis.
|Trait||Systemic lupus erythematosus|
|Title||Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.|
[PMID 24023622] Analysis of Gender Differences in Genetic Risk: Association of TNFAIP3 Polymorphism with Male Childhood-Onset Systemic Lupus Erythematosus in the Japanese Population
[PMID 24159176] Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndrome
[PMID 23582631] Pathway analysis of genome-wide association studies on rheumatoid arthritis
[PMID 22488580] Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity.
[PMID 22924496] Associations between TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis.
[PMID 25674272] TNFAIP3 rs2230926 polymorphisms in rheumatoid arthritis of southern Chinese Han population: a case-control study
[PMID 25806576] The polymorphisms of tumor necrosis factor-induced protein 3 gene may contribute to the susceptibility of chronic primary immune thrombocytopenia in Chinese population
[PMID 25337792] Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population
[PMID 26338037] Germline variation of TNFAIP3 in primary Sjögren's syndrome-associated lymphoma
[PMID 26846592] Single nucleotide polymorphisms of TNFAIP3 are associated with systemic lupus erythematosus in Han Chinese population.
[PMID 28448618] rs10499194 polymorphism in the tumor necrosis factor-α inducible protein 3 (TNFAIP3) gene is associated with type-1 autoimmune hepatitis risk in Chinese Han population.