rs1061622, TNFRSF1B

N. diseases: 33
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.040 GeneticVariation BEFREE Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese. 11169260 2001
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.020 GeneticVariation BEFREE Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese. 11169260 2001
Vasculitis
CUI: C0042384
Disease: Vasculitis
0.010 GeneticVariation BEFREE Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese. 11169260 2001
Encephalitis, St. Louis
CUI: C0014060
Disease: Encephalitis, St. Louis
0.010 GeneticVariation BEFREE Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese. 11169260 2001
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.040 GeneticVariation BEFREE Thus, among the non-synonymous cSNPs, only nt587 (T-->G) (M196R) was found to be significantly associated with SLE in Japanese. 11197692 2000
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.040 GeneticVariation BEFREE In conclusion, no skewed distribution of TNFR2 196 R/M polymorphism was found in Korean patients with SLE compared with healthy controls. 11600223 2001
Hyperandrogenism
CUI: C0206081
Disease: Hyperandrogenism
0.020 GeneticVariation BEFREE In conclusion, the M196R (676 T-->G) variant in exon 6 of TNFRSF1B is associated with hyperandrogenism and PCOS, further suggesting a role for inflammatory cytokines in the pathogenesis of these disorders. 12161545 2002
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE In conclusion, the M196R (676 T-->G) variant in exon 6 of TNFRSF1B is associated with hyperandrogenism and PCOS, further suggesting a role for inflammatory cytokines in the pathogenesis of these disorders. 12161545 2002
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
0.010 GeneticVariation BEFREE In this study, we investigated genetic polymorphisms of TNF alpha -308 G/A, TNF beta +252 G/A, and TNFR2 196 R/M in 94 Korean BD patients and age- and sex-matched healthy controls to investigate the role of TNF and TNF receptor polymorphisms in BD. 12770792 2003
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE The results of the present study support the hypothesis that there is an association between the TNFRII 196 M/R gene polymorphism and the functional severity of early RA. 15022314 2004
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE To assess the association between the tumour necrosis factor receptor 2 (TNFR2) 196 M/R single-nucleotide polymorphism and rheumatoid arthritis (RA) severity by taking advantage of the extremes of phenotype that exist in arthritis. 15252214 2004
Arthritis
CUI: C0003864
Disease: Arthritis
0.010 GeneticVariation BEFREE To assess the association between the tumour necrosis factor receptor 2 (TNFR2) 196 M/R single-nucleotide polymorphism and rheumatoid arthritis (RA) severity by taking advantage of the extremes of phenotype that exist in arthritis. 15252214 2004
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.010 GeneticVariation BEFREE Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphisms of EGFL3 (rs947345)A -->G, caspase 9 ( rs2308938) C-->G and PHGDH(rs1801955)T-->A, 5 of polymorphisms of E2F2(rs3218170) G-->A,4 of polymorphisms of MUTYH(rs1140507)T-->C and BNIP3L(rs1055806)G-->T, and 1 of polymorphism of TNFRSF1B (rs1061622)T-->G were detected by the chip in the tissues of 10 HCC. 16109524 2005
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE Tumor necrosis factor receptor 2 M196R polymorphism in rheumatoid arthritis and osteoarthritis: relationship with sTNFR2 levels and clinical features. 16871413 2006
Osteoarthritis, Knee
CUI: C0409959
Disease: Osteoarthritis, Knee
0.010 GeneticVariation BEFREE We investigate the clinical association of tumor necrosis factor receptor 2 (TNFR2) M196R polymorphism with rheumatoid arthritis (RA) and knee osteoarthritis (OA). 16871413 2006
Degenerative polyarthritis
CUI: C0029408
Disease: Degenerative polyarthritis
0.010 GeneticVariation BEFREE Tumor necrosis factor receptor 2 M196R polymorphism in rheumatoid arthritis and osteoarthritis: relationship with sTNFR2 levels and clinical features. 16871413 2006
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE To assess the effect of a functional polymorphism (676T>G, M196R) in the tumour necrosis factor receptor super family 1b (TNFSF1b) gene on disease activity, radiological joint damage and response to infliximab and adalimumab treatment in patients with rheumatoid arthritis (RA). 18385279 2008
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated with infliximab therapy. 18565259 2008
Hyperandrogenism
CUI: C0206081
Disease: Hyperandrogenism
0.020 GeneticVariation BEFREE The opposite behaviors in terms of clinical expressivity detected for CAPN-UCSNP44 and TNFR2-M196R rare variants suggest these variants to be sensitizing and protective factors respectively in adrenal hyperandrogenism. 19039234 2009
21-hydroxylase deficiency
CUI: C0852654
Disease: 21-hydroxylase deficiency
0.010 GeneticVariation BEFREE The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical 21OHD [NC21OHD] children; 306 hyperandrogenic 21OHD carriers, n = 306) and a polygenic association study (CAPN10-UCSNP44, PON1-108, TNFR2-M196R, IGF2-ApaI and IRS1-G972R polymorphisms) of 170 hyperandrogenic carriers plus 277 family members (control groups). 19039234 2009
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
0.010 GeneticVariation BEFREE The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical 21OHD [NC21OHD] children; 306 hyperandrogenic 21OHD carriers, n = 306) and a polygenic association study (CAPN10-UCSNP44, PON1-108, TNFR2-M196R, IGF2-ApaI and IRS1-G972R polymorphisms) of 170 hyperandrogenic carriers plus 277 family members (control groups). 19039234 2009
Deficiency of steroid 21-monooxygenase
0.010 GeneticVariation BEFREE The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical 21OHD [NC21OHD] children; 306 hyperandrogenic 21OHD carriers, n = 306) and a polygenic association study (CAPN10-UCSNP44, PON1-108, TNFR2-M196R, IGF2-ApaI and IRS1-G972R polymorphisms) of 170 hyperandrogenic carriers plus 277 family members (control groups). 19039234 2009
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.040 GeneticVariation BEFREE Our findings suggest that the association between cigarette smoking and SLE could be differentiated by the TNFRSF1B rs1061622 T allele among female Japanese subjects. 19684152 2009
Paranoid Schizophrenia
CUI: C0036349
Disease: Paranoid Schizophrenia
0.020 GeneticVariation BEFREE Association of the Met-196-Arg variation of human tumor necrosis factor receptor 2 (TNFR2) with paranoid schizophrenia. 20842464 2011
Acne Vulgaris
CUI: C0001144
Disease: Acne Vulgaris
0.010 GeneticVariation BEFREE The 196R allele of TNFR2 M196R as well as the 753Gln allele of TLR2 Arg753Gln are risk factors for acne vulgaris in Chinese Han patients, further supporting the contribution of inflammatory cytokines to the pathogenesis of acne. 20861605 2010