rs2230926
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 137874929 |
| Gene | TNFAIP3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2230926 |
| dbSNP (classic) | rs2230926 |
| ClinGen | rs2230926 |
| ebi | rs2230926 |
| HLI | rs2230926 |
| Exac | rs2230926 |
| Gnomad | rs2230926 |
| Varsome | rs2230926 |
| LitVar | rs2230926 |
| Map | rs2230926 |
| PheGenI | rs2230926 |
| Biobank | rs2230926 |
| 1000 genomes | rs2230926 |
| hgdp | rs2230926 |
| ensembl | rs2230926 |
| geneview | rs2230926 |
| scholar | rs2230926 |
| rs2230926 | |
| pharmgkb | rs2230926 |
| gwascentral | rs2230926 |
| openSNP | rs2230926 |
| 23andMe | rs2230926 |
| SNPshot | rs2230926 |
| SNPdbe | rs2230926 |
| MSV3d | rs2230926 |
| GWAS Ctlg | rs2230926 |
| GMAF | 0.124 |
| Max Magnitude | 2.1 |
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.
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
Meta-analysis found 1.4x risk of rheumatoid arthritis for rs2230926(G;G) [PMID 22402800]
An association was found between Systemic lupus erythematosus (SLE) and rs2230926.[PMID 18677310]
Three independent SNPs in the TNFAIP3 region (rs13192841, rs2230926 and rs6922466) are associated with systemic lupus erythematosus (SLE) among individuals of European ancestry.[PMID 19165919
]
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
| GWAS snp | |
|---|---|
| PMID | [PMID 19838193] |
| Trait | Systemic lupus erythematosus |
| Title | Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus |
| Risk Allele | C |
| P-val | 1E-17 |
| 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
| GWAS snp | |
|---|---|
| PMID | [PMID 20453841] |
| Trait | Rheumatoid arthritis |
| Title | A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility |
| Risk Allele | C |
| P-val | 0.000002 |
| 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.
| GWAS snp | |
|---|---|
| PMID | [PMID 23273568]
|
| 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. |
| Risk Allele | G |
| P-val | 1E-13 |
| Odds Ratio | 2.71 |
[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.
| ClinVar | |
|---|---|
| Risk | rs2230926(C;C) Rs2230926(G;G) |
| Alt | rs2230926(C;C) Rs2230926(G;G) |
| Reference | Rs2230926(T;T) |
| Significance | Untested |
| Disease | not specified |
| Variation | info |
| Gene | TNFAIP3 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000006.11:g.138196066T>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000122149.1, |
[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.
[PMID 30923465] SNP variations in IL10, TNFα and TNFAIP3 genes in patients with dry eye syndrome and Sjogren's syndrome.
[PMID 31534975] TNFAIP3 Gene Polymorphisms in Three Common Autoimmune Diseases: Systemic Lupus Erythematosus, Rheumatoid Arthritis, and Primary Sjogren Syndrome-Association with Disease Susceptibility and Clinical Phenotypes in Italian Patients.
[PMID 33287909] The haplotypes of various TNF related genes associated with scleritis in Chinese Han.
