Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2069705
rs2069705
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE SLE susceptibility association was significant with rs2069705 in the promoter (adjusted OR 2.27, p=0.0024) and marginal with rs3181032 in the promoter (p=0.037), rs2430561 in intron 1 (p=0.022) and rs2069718 in intron 3 (p=0.026) in a recessive genetic model. 19919944

2010

dbSNP: rs2069705
rs2069705
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.010 GeneticVariation BEFREE SLE susceptibility association was significant with rs2069705 in the promoter (adjusted OR 2.27, p=0.0024) and marginal with rs3181032 in the promoter (p=0.037), rs2430561 in intron 1 (p=0.022) and rs2069718 in intron 3 (p=0.026) in a recessive genetic model. 19919944

2010

dbSNP: rs2430561
rs2430561
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.010 GeneticVariation BEFREE SLE susceptibility association was significant with rs2069705 in the promoter (adjusted OR 2.27, p=0.0024) and marginal with rs3181032 in the promoter (p=0.037), rs2430561 in intron 1 (p=0.022) and rs2069718 in intron 3 (p=0.026) in a recessive genetic model. 19919944

2010

dbSNP: rs2069718
rs2069718
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.010 GeneticVariation BEFREE SLE susceptibility association was significant with rs2069705 in the promoter (adjusted OR 2.27, p=0.0024) and marginal with rs3181032 in the promoter (p=0.037), rs2430561 in intron 1 (p=0.022) and rs2069718 in intron 3 (p=0.026) in a recessive genetic model. 19919944

2010

dbSNP: rs2069718
rs2069718
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE SLE susceptibility association was significant with rs2069705 in the promoter (adjusted OR 2.27, p=0.0024) and marginal with rs3181032 in the promoter (p=0.037), rs2430561 in intron 1 (p=0.022) and rs2069718 in intron 3 (p=0.026) in a recessive genetic model. 19919944

2010

dbSNP: rs771694484
rs771694484
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B
0.010 GeneticVariation BEFREE Autosomal recessive IRF8 deficiency is caused by mutation K108E and associated with severe disease with complete depletion of monocytes and dendritic cells. 23468103

2013

dbSNP: rs2430561
rs2430561
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.010 GeneticVariation BEFREE rs2430561 does not seem to have any role in ITP pathogenesis and treatment response. 30955035

2019

dbSNP: rs2430561
rs2430561
CUI: C0679362
Disease: Tuberculosis, extrapulmonary
Tuberculosis, extrapulmonary
0.010 GeneticVariation BEFREE A trial sequential meta-analysis of IFN-γ +874 A>T (rs2430561) gene polymorphism and extrapulmonary tuberculosis risk. 30825502

2019

dbSNP: rs1861493
rs1861493
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
0.010 GeneticVariation BEFREE AA allele frequencies of rs1861493 were also associated with a significantly higher risk of CAA in KD patients. 27124053

2016

dbSNP: rs2069705
rs2069705
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease
0.010 GeneticVariation BEFREE Among the seven tested SNPs, four polymorphisms: IFN-A rs10757212, IFN-A rs3758236, IFN-G rs2069705, IFN-G rs2069718, as well as INF-G rs1861493A/rs2069705A/rs2069718G haplotype were significantly associated with a predisposition for MCTD. 31766529

2019

dbSNP: rs2069705
rs2069705
CUI: C0085568
Disease: Buruli Ulcer
Buruli Ulcer
0.010 GeneticVariation BEFREE By typing a cohort of 96 Ghanaian BU patients and 384 endemic controls without BU, we show an association between BU and single nucleotide polymorphisms (SNPs) in <i>iNOS</i> (rs9282799) and <i>IFNG</i> (rs2069705). 29046669

2017

dbSNP: rs2069727
rs2069727
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE CONCLUSIONS IFN-γ rs2069727 and MICA rs2596542 polymorphisms may be related to the incidence of HCC. 26893439

2016

dbSNP: rs2430561
rs2430561
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Cytokine rs361525, rs1800750, rs1800629, rs1800896, rs1800872, rs1800795, rs1800470, and rs2430561 SNPs in relation with prognostic factors in acute myeloid leukemia. 31373163

2019

dbSNP: rs2430561
rs2430561
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 GeneticVariation BEFREE Data from previous studies about the association between interferon gamma (IFN-γ) +874 T/A (rs2430561) polymorphism and cervical cancer risk offer controversial results. 25649976

2015

dbSNP: rs2430561
rs2430561
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 GeneticVariation BEFREE Data from previous studies about the association between interferon gamma (IFN-γ) +874 T/A (rs2430561) polymorphism and cervical cancer risk offer controversial results. 25649976

2015

dbSNP: rs2430561
rs2430561
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.010 GeneticVariation BEFREE Data from previous studies about the association between interferon gamma (IFN-γ) +874 T/A (rs2430561) polymorphism and cervical cancer risk offer controversial results. 25649976

2015

dbSNP: rs1861494
rs1861494
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010 GeneticVariation BEFREE Eighty-five patients with vitiligo and 90 controls were investigated for IFN-γ gene expression by quantitative real-time PCR and genotyped for IFN-γ +874T/A (rs2430561) and IFN-γ +2109A/G (rs1861494) gene polymorphisms by sequence-specific primer (SSP)-PCR and PCR-restriction fragment length polymorphism (RFLP), respectively. 28273427

2017

dbSNP: rs1861494
rs1861494
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.010 GeneticVariation BEFREE Eighty-five patients with vitiligo and 90 controls were investigated for IFN-γ gene expression by quantitative real-time PCR and genotyped for IFN-γ +874T/A (rs2430561) and IFN-γ +2109A/G (rs1861494) gene polymorphisms by sequence-specific primer (SSP)-PCR and PCR-restriction fragment length polymorphism (RFLP), respectively. 28273427

2017

dbSNP: rs2069705
rs2069705
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE Finally, we verified higher IL-6 value in the RA patients than healthy control group (p = 0.007) and an association between high IL-6 levels and increased CDAI (r = 0.4648, p = 0.0015); DAS 28 (r = 0.3933, p= 0.0091), presence of bone erosions (r = 0.3170, p = 0.0361), ESR levels(r = 0.3041, p = 0.0448) and IFN-γ levels (r = 0.3049, p = 0.0468).Altogether, we suggest that IL10 -1082 (T>C, rs1800896) and INFG -1616(A>G, rs2069705) polymorphisms as well as IL-6 levels alterations may play a role for prognostic and disease follow-up. 31494241

2020

dbSNP: rs2069705
rs2069705
CUI: C0002893
Disease: Refractory anemias
Refractory anemias
0.010 GeneticVariation BEFREE Finally, we verified higher IL-6 value in the RA patients than healthy control group (p = 0.007) and an association between high IL-6 levels and increased CDAI (r = 0.4648, p = 0.0015); DAS 28 (r = 0.3933, p= 0.0091), presence of bone erosions (r = 0.3170, p = 0.0361), ESR levels(r = 0.3041, p = 0.0448) and IFN-γ levels (r = 0.3049, p = 0.0468).Altogether, we suggest that IL10 -1082 (T>C, rs1800896) and INFG -1616(A>G, rs2069705) polymorphisms as well as IL-6 levels alterations may play a role for prognostic and disease follow-up. 31494241

2020

dbSNP: rs2069705
rs2069705
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
0.010 GeneticVariation BEFREE Finally, we verified higher IL-6 value in the RA patients than healthy control group (p = 0.007) and an association between high IL-6 levels and increased CDAI (r = 0.4648, p = 0.0015); DAS 28 (r = 0.3933, p= 0.0091), presence of bone erosions (r = 0.3170, p = 0.0361), ESR levels(r = 0.3041, p = 0.0448) and IFN-γ levels (r = 0.3049, p = 0.0468).Altogether, we suggest that IL10 -1082 (T>C, rs1800896) and INFG -1616(A>G, rs2069705) polymorphisms as well as IL-6 levels alterations may play a role for prognostic and disease follow-up. 31494241

2020

dbSNP: rs2069705
rs2069705
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE Further pooled analysis with Korean populations involving 10498 subjects showed a more significant association between rs2069705 and SLE (T vs. C: OR = 1.11, 95%CI = 1.04-1.19, P = 0.002; TT + TC vs. CC: OR = 1.11, 95%CI = 1.02-1.21, P = 0.012; TT vs. TC + CC: OR = 1.28, 95%CI = 1.07-1.54, P = 0.008; TT vs. CC: OR =  .33, 95%CI = 1.10-1.60, P = 0.003). 26916970

2016

dbSNP: rs2430561
rs2430561
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 GeneticVariation BEFREE Further studies with larger sample sizes and consideration of gene-environment interactions should be conducted to elucidate the role of <i>IFNG</i> +874 T/A(rs2430561) polymorphism in tuberculosis susceptibility. 28881572

2017

dbSNP: rs2430561
rs2430561
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.020 GeneticVariation BEFREE Furthermore, the <i>IFNG</i> +874 T/A(rs2430561)polymorphism played an important role in protecting individuals from both pulmonary tuberculosis and extra-pulmonary tuberculosis. 28881572

2017

dbSNP: rs2430561
rs2430561
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 GeneticVariation BEFREE Given its key role in the control of tuberculosis (TB), in the present article we have investigated a possible association between IFN-γ gene single-nucleotide polymorphism linked to high and low producer phenotypes (IFN-γ [+874T(high) → A(low)]) (rs2430561) and risk development of active TB in Tunisian patients. 21332391

2011