rs10499194
| (T;T) protective against rheumatoid arthritis |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (T;T) | 2 | protective against rheumatoid arthritis for asians |
| Make rs10499194(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 137681500 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10499194 |
| dbSNP (classic) | rs10499194 |
| ClinGen | rs10499194 |
| ebi | rs10499194 |
| HLI | rs10499194 |
| Exac | rs10499194 |
| Gnomad | rs10499194 |
| Varsome | rs10499194 |
| LitVar | rs10499194 |
| Map | rs10499194 |
| PheGenI | rs10499194 |
| Biobank | rs10499194 |
| 1000 genomes | rs10499194 |
| hgdp | rs10499194 |
| ensembl | rs10499194 |
| geneview | rs10499194 |
| scholar | rs10499194 |
| rs10499194 | |
| pharmgkb | rs10499194 |
| gwascentral | rs10499194 |
| openSNP | rs10499194 |
| 23andMe | rs10499194 |
| SNPshot | rs10499194 |
| SNPdbe | rs10499194 |
| MSV3d | rs10499194 |
| GWAS Ctlg | rs10499194 |
| GMAF | 0.1745 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 17982456
] rs10499194 associated with rheumatoid arthritis
In a concurrent study, the Wellcome Trust Case Control Consortium (WTCCC) has reported strong association of rheumatoid arthritis susceptibility to a different SNP located 3.8 kb from rs10499194 (rs6920220; P = 5 x 10(-6) in WTCCC). We show that these two SNP associations are statistically independent, are each reproducible in the comparison of our data and WTCCC data, and define risk and protective haplotypes for rheumatoid arthritis at 6q23.
[PMID 19417005] rheumatoid arthritis
- rs6920220 [P= 2.6 x 10(-6), OR 1.22 (1.13-1.33)].
- rs5029937
- rs13207033 protective [P= 0.0001, OR 0.86 (0.8-0.93)] perfectly correlated with rs10499194
The combination of the carriage of both risk alleles of rs6920220 and rs5029937 together with the absence of the protective allele of rs13207033 was strongly associated with RA when compared to carriage of none [OR of 1.86 (95% CI) (1.51-2.29)]. This equates to an effect size of 1.50 (95% CI 1.21-1.85)
| GWAS | |
|---|---|
| SNP | rs10499194 |
| PubMedID | [PMID 17982456]
|
| Condition | Rheumatoid arthritis |
| Gene | TNFAIP3, OLIG3 |
| Risk Allele | C |
| pValue | 1.00E-009 |
| OR | 1.33 |
| 95% CI | 1.15-1.52 |
[PMID 19401279] Susceptibility variants for rheumatoid arthritis in the TRAF1-C5 and 6q23 loci: a meta-analysis
[PMID 19565500] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis
[PMID 20112363] The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the Japanese population
[PMID 19366996] Association of the 6q23 region with the rate of joint destruction in rheumatoid arthritis
[PMID 18794853] Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
[PMID 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
[PMID 18987647] Rheumatoid arthritis: a view of the current genetic landscape.
[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 19292917] Analysis of TNFAIP3, a feedback inhibitor of nuclear factor-kappaB and the neighbor intergenic 6q23 region in rheumatoid arthritis susceptibility.
[PMID 19321514] 6q23 polymorphisms in rheumatoid arthritis Spanish patients.
[PMID 19387456] Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations.
[PMID 19439038] Complex genetic association of 6q23 with autoimmune rheumatic conditions.
[PMID 19445664] Association of common polymorphisms in known susceptibility genes with rheumatoid arthritis in a Slovak population using osteoarthritis patients as controls.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19674979] Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.
[PMID 19849816] Genetics of rheumatic disease.
[PMID 20018027] Conditional analysis of the major histocompatibility complex in rheumatoid arthritis.
[PMID 20439292] Genetic variants in the prediction of rheumatoid arthritis.
[PMID 20511617] Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population.
[PMID 22402800] Associations between TNFAIP3 gene polymorphisms and rheumatoid arthritis: a meta-analysis.
[PMID 23161053] TNFAIP3 gene polymorphisms confer risk for Behcet's disease in a Chinese Han population
[PMID 23450725] Susceptibility to childhood-onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of variants at five genetic loci.
[PMID 26005883] Lack of association of TNFAIP3 and JAK1 with Behçet's disease in the European 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 28702029] Inflammation-Related Gene Polymorphisms Associated With Primary Immune Thrombocytopenia.
