rs2230926, TNFAIP3

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.080 GeneticVariation BEFREE Rs10499194 and rs2230926 polymorphisms in the TNFAIP3 gene region may be susceptibility factors for rheumatoid arthritis in the northern Chinese Han population. 24884566 2014
Adult type dermatomyositis
CUI: C0221056
Disease: Adult type dermatomyositis
0.010 GeneticVariation BEFREE And rs2230926 and rs5029939 were significantly associated with interstitial lung disease (ILD) in PM/DM and PM patients (P(c) = 0.04 and P(c) = 0.016; P(c) = 0.02 and P(c) = 0.03, respectively). 25337792 2014
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.010 GeneticVariation BEFREE And rs2230926 and rs5029939 were significantly associated with interstitial lung disease (ILD) in PM/DM and PM patients (P(c) = 0.04 and P(c) = 0.016; P(c) = 0.02 and P(c) = 0.03, respectively). 25337792 2014
Polymyositis
CUI: C0085655
Disease: Polymyositis
0.010 GeneticVariation BEFREE Our study indicated a strong allele association was observed in PM/DM and PM patients for rs2230926</span> (OR: 1.61, 95%CI: 1.20-2.16, P(c) = 7.5×10(-3); OR: 1.88, 95%CI: 1.30-2.74, P(c) = 4.0×10(-3), respectively) and rs5029939 (OR: 1.64, 95%CI: 1.21-2.21, P(c) = 6.0×10(-3); OR: 1.88, 95%CI: 1.28-2.76, P(c) = 5.5×10(-3), respectively). 25337792 2014
Dermatomyositis
CUI: C0011633
Disease: Dermatomyositis
0.010 GeneticVariation BEFREE And rs2230926 and rs5029939 were significantly associated with interstitial lung disease (ILD) in PM/DM and PM patients (P(c) = 0.04 and P(c) = 0.016; P(c) = 0.02 and P(c) = 0.03, respectively). 25337792 2014
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.080 GeneticVariation BEFREE In the present study, our results indicated that the genetic polymorphism of rs2230926 in TNFAIP3 may be a susceptible factor conferring risk for RA in southern Chinese Han population. 25674272 2014
Immune thrombocytopenic purpura
CUI: C0398650
Disease: Immune thrombocytopenic purpura
0.010 GeneticVariation BEFREE We observed significant difference in the allelic and genotypic distributions of rs2230926 and rs5029939 between the ITP and control groups (p < 0.05). 25806576 2016
Hepatitis, Chronic
CUI: C0019189
Disease: Hepatitis, Chronic
0.010 GeneticVariation BEFREE The genotype and allele frequencies of TNFAIP3 rs2230926 polymorphism between HBV patients with chronic hepatitis, liver cirrhosis and hepatocellular carcinoma also showed no significant difference. 25890346 2015
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.010 GeneticVariation BEFREE The TNFAIP3 rs2230926 polymorphism is not suggested to be associated with the susceptibility of chronic HBV infection or the progression of HBV-related diseases in this study. 25890346 2015
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.010 GeneticVariation BEFREE The genotype and allele frequencies of TNFAIP3 rs2230926 polymorphism between HBV patients with chronic hepatitis, liver cirrhosis and hepatocellular carcinoma also showed no significant difference. 25890346 2015
Hepatitis B, Chronic
CUI: C0524909
Disease: Hepatitis B, Chronic
0.010 GeneticVariation BEFREE Association between TNFAIP3 nonsynonymous single-nucleotide polymorphism rs2230926 and chronic hepatitis B virus infection in a Chinese Han population. 25890346 2015
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.080 GeneticVariation BEFREE A20 rs2230926 TG genotype and rs146534657 AG genotype may be related to poor outcome in RA patients. 26143186 2015
Childhood Lymphoma
CUI: C1332979
Disease: Childhood Lymphoma
0.040 GeneticVariation BEFREE A germline and coding polymorphism (rs2230926) of TNFAIP3 (A20), a central gatekeeper of nuclear factor-kappa B (NF-kB) activation, was recently found associated with primary Sjögren's syndrome (pSS)-associated lymphoma in a French cohort.We aimed to replicate this association. 26338037 2016
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
0.040 GeneticVariation BEFREE A germline and coding polymorphism (rs2230926) of TNFAIP3 (A20), a central gatekeeper of nuclear factor-kappa B (NF-kB) activation, was recently found associated with primary Sjögren's syndrome (pSS)-associated lymphoma in a French cohort.We aimed to replicate this association. 26338037 2016
Lymphoma
CUI: C0024299
Disease: Lymphoma
0.040 GeneticVariation BEFREE A germline and coding polymorphism (rs2230926) of TNFAIP3 (A20), a central gatekeeper of nuclear factor-kappa B (NF-kB) activation, was recently found associated with primary Sjögren's syndrome (pSS)-associated lymphoma in a French cohort.We aimed to replicate this association. 26338037 2016
Primary Sjögren's syndrome
CUI: C0151449
Disease: Primary Sjögren's syndrome
0.030 GeneticVariation BEFREE In both cohorts, the rs2230926 missense polymorphism was not associated with pSS. 26338037 2016
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.900 GeneticVariation GWASCAT Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. 26663301 2016
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.900 GeneticVariation GWASCAT Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. 27399966 2016
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE The results of our meta-analysis suggest that TNFAIP3 (rs2230926, rs5029937, rs5029939, and rs3757173) polymorphisms are associated with susceptibility to SLE. 27726311 2016
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.080 GeneticVariation BEFREE Meta-analysis indicated that TNFAIP3 gene rs6920220, rs2230926, and rs5029937 polymorphisms were associated with the increased risk of RA. 28199970 2017
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.700 GeneticVariation GWASCAT Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. 28314753 2017
Rheumatism
CUI: C0035435
Disease: Rheumatism
0.010 GeneticVariation BEFREE TNFAIP3 (rs2230926) had the strongest effect related to European League Against Rheumatism response. 28639493 2017
Collagen Diseases
CUI: C0009326
Disease: Collagen Diseases
0.010 GeneticVariation BEFREE TNFAIP3 (rs2230926) had the strongest effect related to European League Against Rheumatism response. 28639493 2017
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.080 GeneticVariation BEFREE In conclusion, this meta-analysis demonstrates that TNFAIP3 gene polymorphisms (rs2230926 and rs5029937) are associated with the increased risk of RA. 28888761 2017
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE The TT > A variants and the TNFAIP3 exon 3 coding variant rs2230926 demonstrated significant associations in SLE (P<sub>TT > A</sub> = 8.96 × 10<sup>-12</sup>, odds ratio [OR] = 2.07, 95% confidence interval [CI] = 1.68-2.55). 30529365 2019