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From SNPedia

Geno Mag Summary
(A;A) 1.8x increased lupus risk
(A;C) 1.8x increased lupus risk
(C;C) 0 normal
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1800630
23andMe allrs1800630
SNP Nexus

GWAS Ctlgrs1800630
Max Magnitude0
? (A;A) (A;C) (C;C) 28
rs1800630 is a SNP upstream of the tumor necrosis alpha (TNF) gene; this SNP is also typically called the -863 variant.

In a study of 154 Thai patients with systemic lupus erythematosus (SLE), rs1800630(A) allele frequency was significantly increased, with an odds ratio of 1.85 (CI: 1.21-2.83, p(corr) = 0.009). This allele was also found to be significantly increased in the SLE group with Raynaud's phenomenon compared to SLE without Raynaud's phenomenon ( odds ratio of 2.23, CI: 1.21-4.10, p(corr) = 0.048).[PMID 18001298]

Separately, a meta-analysis of 10 case-control studies, including over 2,200 Graves' disease cases, concluded that rs1800630(A) carriers were associated with the disease.[PMID 18472000]


[PMID 20177654] Obesity-dependent association of TNF-LTA locus with type 2 diabetes in North Indians

[PMID 20825556] Tumour necrosis factor-α promoter region polymorphisms affect the course of spontaneous HBsAg clearance

[PMID 21450487] Tumor necrosis factor-? -863 C/A promoter polymorphism affects the inflammatory response after cardiac surgery

[PMID 21904873] Association of tumor necrosis factor-? (TNF-?) promoter polymorphisms with overweight/obesity in a Korean population

[PMID 21985478OA-icon.png] TNFA -863 polymorphism is associated with a reduced risk of Chronic Obstructive Pulmonary Disease: A replication study

[PMID 21593777] Association of HLA and TNF polymorphisms with the outcome of HBV infection in the South Indian population.

[PMID 12509789OA-icon.png] Identification of I kappa BL as the second major histocompatibility complex-linked susceptibility locus for rheumatoid arthritis.

[PMID 17216494] Genetic variation in tumor necrosis factor and lymphotoxin-alpha (TNF-LTA) and breast cancer risk.

[PMID 17327408OA-icon.png] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.

[PMID 17493155] Significant association between TNF-alpha (TNF) promoter allele (-1031C, -863C, and -857C) and cerebral malaria in Thailand.

[PMID 17595314] Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample.

[PMID 18194515OA-icon.png] Polymorphisms of TNF-enhancer and gene for FcgammaRIIa correlate with the severity of falciparum malaria in the ethnically diverse Indian population.

[PMID 18196539] TNF polymorphisms and prostate cancer risk.

[PMID 18366708OA-icon.png] SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.

[PMID 18633131OA-icon.png] Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.

[PMID 18635873OA-icon.png] TNF promoter polymorphisms associated with muscle phenotypes in humans.

[PMID 18676870OA-icon.png] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.

[PMID 18709160OA-icon.png] Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.

[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 19066394OA-icon.png] Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.

[PMID 19356949OA-icon.png] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

[PMID 19409079OA-icon.png] Association of MICA with rheumatoid arthritis independent of known HLA-DRB1 risk alleles in a family-based and a case control study.

[PMID 19505919OA-icon.png] Toll-like receptor signaling pathway variants and prostate cancer mortality.

[PMID 19615068OA-icon.png] The role of TNF genetic variants and the interaction with cigarette smoking for gastric cancer risk: a nested case-control study.

[PMID 19673019OA-icon.png] IL-10 and TNF-alpha promoter haplotypes are associated with childhood Crohn's disease location.

[PMID 19673882OA-icon.png] A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.

[PMID 20217072OA-icon.png] SNP/haplotype associations in cytokine and cytokine receptor genes and immunity to rubella vaccine.

[PMID 20796230] Tumour necrosis factor-alpha gene polymorphisms and susceptibility to oral lichen planus.

[PMID 21385363OA-icon.png] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.

[PMID 23870134OA-icon.png] Association of tumor necrosis factor-alpha promoter variants with risk of HPV-associated oral squamous cell carcinoma

[PMID 24151497OA-icon.png] Association Analysis of IL10, TNF-α, and IL23R-IL12RB2 SNPs with Behçet's Disease Risk in Western Algeria

[PMID 24405540] [Association of TNF-1031T/C and clinical efficacy of insulin therapy in newly diagnosed type 2 diabetics]

[PMID 22711844] SNPs in the TNF-alpha gene promoter associated with Behcet's disease in Moroccan patients.

[PMID 24905365] TNF-α gene promoter polymorphisms contribute to periodontitis susceptibility: evidence from 46 studies

[PMID 24935328] Functional tumor necrosis factor alpha polymorphisms and haplotype analysis in high-risk corneal transplantation

[PMID 25636570] Association of TNF -1031 C/C as a potential protection marker for leprosy development in Amazonas state patients, Brazil

[PMID 25422198] Polymorphic variation of inflammation-related genes and risk of non-Hodgkin lymphoma for Uygur and Han Chinese in Xinjiang

[PMID 26550110OA-icon.png] The role of gene variants of the inflammatory markers CRP and TNF-α in cardiovascular heart disease: systematic review and meta-analysis