rs1800630
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.8x increased lupus risk | |
| (A;C) | 1.8x increased lupus risk | |
| (C;C) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 31574699 |
| Gene | LOC100287329, LTA, TNF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800630 |
| dbSNP (classic) | rs1800630 |
| ClinGen | rs1800630 |
| ebi | rs1800630 |
| HLI | rs1800630 |
| Exac | rs1800630 |
| Gnomad | rs1800630 |
| Varsome | rs1800630 |
| LitVar | rs1800630 |
| Map | rs1800630 |
| PheGenI | rs1800630 |
| Biobank | rs1800630 |
| 1000 genomes | rs1800630 |
| hgdp | rs1800630 |
| ensembl | rs1800630 |
| geneview | rs1800630 |
| scholar | rs1800630 |
| rs1800630 | |
| pharmgkb | rs1800630 |
| gwascentral | rs1800630 |
| openSNP | rs1800630 |
| 23andMe | rs1800630 |
| SNPshot | rs1800630 |
| SNPdbe | rs1800630 |
| MSV3d | rs1800630 |
| GWAS Ctlg | rs1800630 |
| GMAF | 0.1451 |
| Max Magnitude | 0 |
| ? | (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 21985478
] 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 12509789] 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 17327408] 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 18194515] 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 18366708] SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.
[PMID 18633131] 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 18635873] TNF promoter polymorphisms associated with muscle phenotypes in humans.
[PMID 18676870] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.
[PMID 18709160] Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 19066394] Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.
[PMID 19356949] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.
[PMID 19409079] Association of MICA with rheumatoid arthritis independent of known HLA-DRB1 risk alleles in a family-based and a case control study.
[PMID 19505919] Toll-like receptor signaling pathway variants and prostate cancer mortality.
[PMID 19615068] The role of TNF genetic variants and the interaction with cigarette smoking for gastric cancer risk: a nested case-control study.
[PMID 19673019] IL-10 and TNF-alpha promoter haplotypes are associated with childhood Crohn's disease location.
[PMID 19673882] A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
[PMID 20217072] 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 21385363] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.
[PMID 23870134] Association of tumor necrosis factor-alpha promoter variants with risk of HPV-associated oral squamous cell carcinoma
[PMID 24151497] 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 26550110] The role of gene variants of the inflammatory markers CRP and TNF-α in cardiovascular heart disease: systematic review and meta-analysis
[PMID 28060727] Associations between genetic variants in immunoregulatory genes and risk of non-Hodgkin lymphoma in a Chinese population.
[PMID 29027627] Association of TNF-α-3959T/C Gene Polymorphisms in the Chinese Population with Intracranial Aneurysms.
[PMID 29409002] PTPN22 and CTLA-4 Polymorphisms are Associated with Polyglandular Autoimmunity.
