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rs1800630

From SNPedia

Orientationplus
Stabilizedplus
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
Chromosome6
Position31574699
GeneLTA, TNF
is asnp
is mentioned by
dbSNPrs1800630
ebirs1800630
HLIrs1800630
Exacrs1800630
Varsomers1800630
Maprs1800630
PheGenIrs1800630
hapmaprs1800630
1000 genomesrs1800630
hgdprs1800630
ensemblrs1800630
gopubmedrs1800630
geneviewrs1800630
scholarrs1800630
googlers1800630
pharmgkbrs1800630
gwascentralrs1800630
openSNPrs1800630
23andMers1800630
23andMe allrs1800630
SNP Nexus

SNPshotrs1800630
SNPdbers1800630
MSV3drs1800630
GWAS Ctlgrs1800630
GMAF0.1451
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]

Neighborrs1799964
Distance168
Neighborrs1799724
Distance6


[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