rs1061622, TNFRSF1B

N. diseases: 33
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Acne
CUI: C0702166
Disease: Acne
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
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
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.010 GeneticVariation BEFREE Only rs1061622 was significantly associated with long-term efficacy of etanercept: the TG genotype of rs1061622 worsened ASAS20 and ASAS40 responses at 12 months (P = .021 and .041, respectively).The results suggest that TNFRSF1A and TNFRSF1B polymorphisms were associated with susceptibility, severity, and the long-term therapeutic efficacy of etanercept of patients with AS. 30075559 2018
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
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.020 GeneticVariation BEFREE We conducted a meta-analysis of studies on the association between TNFRSF1B rs1061622 T/G polymorphism or TNFRSF1A A/G rs767455 polymorphism and non-responsiveness to anti-TNF therapy in autoimmune diseases. 26071216 2015
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
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast cancer risk, and SNPs in TNFRSF1A are associated with the clinical features of breast cancer. 25010932 2014
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
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
0.010 GeneticVariation BEFREE The methionine 196 arginine polymorphism of the TNF receptor 2 gene (TNFRSF1B) is not associated with worse outcomes in heart failure. 22921902 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.010 GeneticVariation BEFREE Stratification by disease type indicated an association between the TNFRSF1B rs1061622 allele and non-responders to TNF antagonist in RA (T/G OR 0.69, 95% CI 0.48-0.99, p<0.05) and psoriasis (T/G OR 0.39, 95% CI 0.23-0.67, p<0.001), but not in CD (T/G OR 1.14, 95% CI 0.57-0.93, p=0.57). 26071216 2015
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
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
Depressed mood
CUI: C0344315
Disease: Depressed mood
0.010 GeneticVariation BEFREE It is concluded that the association of <i>TNF-RII</i> rs1061622 with depression is longitudinally different in Chinese Han adolescents after the 2008 Wenchuan earthquake. 29799484 2018
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
0.010 GeneticVariation BEFREE It is concluded that the association of <i>TNF-RII</i> rs1061622 with depression is longitudinally different in Chinese Han adolescents after the 2008 Wenchuan earthquake. 29799484 2018
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
Heart failure
CUI: C0018801
Disease: Heart failure
0.010 GeneticVariation BEFREE The methionine 196 arginine polymorphism of the TNF receptor 2 gene (TNFRSF1B) is not associated with worse outcomes in heart failure. 22921902 2012
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
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
Infection by Wuchereria bancrofti
CUI: C0392663
Disease: Infection by Wuchereria bancrofti
0.010 GeneticVariation BEFREE ET-1 (Ala288Ser) and TNFR-II (Met196Arg) polymorphisms are associated with development of one or the other form of chronic disease in bancroftian filariasis. 21673044 2011
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
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.010 GeneticVariation BEFREE Nevertheless, no association was found between rs1061622 polymorphism and HBV-related liver diseases in the overall or subgroup analyses. 29915336 2018
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
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