Rs1800629

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dbSNPrs1800629
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SNP Nexus

SNPshotrs1800629
SNPdbers1800629
MSV3drs1800629
GeneTNF
Chromosome6
Orientationplus
GMAF0.0952
Position31543031
ReferenceGRCh37.p2 37.2/134
Max Magnitude2.5
Geno Mag Summary
(A;A) 2.5 complex; generally higher risk for certain diseases
(A;G) 2 complex; generally higher risk for certain diseases
(G;G) 0.1 complex; generally normal risk
? (A;A) (A;G) (G;G) 28
Neighborrs1799724
Distance549
Neighborrs361525
Distance70
Neighborrs1800750
Distance68

This SNP in the tumor necrosis factor-alpha gene, rs1800629, is also known as the TNF-308 SNP. Occasionally the rs1800629(A) allele is referred to as 308.2 or TNF2, with the more common (G) allele being 308.1 or TNF1. The (A) allele is associated with higher levels of TNF expression. This SNP has been linked to a wide variety of conditions:

  • Allograft rejection
    • Among 72 Polish patients receiving a kidney transplant, the risk of acute kidney allograft rejection was 2.5x higher among rs1800629(A) carriers compared to (G;G) homozygotes (CI: 1.19- 5.37, p<.05). [PMID 15964333]
  • Asthma
    • A meta-analysis of ~2,500 patients combined indicated that the rs1800629(A) allele was associated with a 1.46x increased risk for asthma. [PMID 16865291]
    • In a study of ~600 Mexican families and their asthmatic children, rs1800629(A) carriers had an increased risk of asthma (relative risk = 1.54, CI: 1.04-2.28), especially among children of non-smoking parents (odds then 2.06, CI: 1.19-3.55, p for interaction = 0.09). [PMID 17450233]
    • In a study of Norwegian children, nonallergic asthma was associated with rs1800629(A) carriers (odds ratio 1.7, CI: 1.3-2.3). [PMID 17686102]
  • Chronic obstructive pulmonary disease
    • A meta-analysis of 36 publications totaling ~5,000 patients concluded that the association between the rs1800629(A) allele and the risk of COPD was statistically significant for Asians (odds ratio 2.36, CI: 1.84 - 3.02, p < 0.0001) but not for Caucasians.[PMID 20946339]
  • Crohn's disease
    • In a study of 235 Portuguese patients, the rs1800629(A;A) genotype was associated with higher susceptibility to Crohn's disease, with an odds ratio of 3.0 (CI: 1.2-7.2). These homozygotes also showed more disease-related complications. [PMID 15803022]
  • Exfoliation glaucoma (XFG)
    • A study of 204 patients with exfoliation glaucoma (XFG) concluded that rs1800629 is unlikely to be a major risk factor for XFG in Caucasians. PMID 19279689
  • Heart disease
    • A study of 600 Italian patients concluded that rs1800629(A) carriers are at increased risk for acute heart attack and have other markers of heart disease. The odd ratio was 1.86, CI: 1.08-3.21, p=0.027). [PMID 16319659]
    • A study of 50 Egyptian children with rheumatic heart disease found increased risk associated with the rs1800629(A;A) homozygotes, with odds ratio = 5.7, p<0.001. However, there was a significantly lower frequency of heterozygous genotypes. [PMID 17607501]
  • Leprosy
    • A study of 37 Thai patients with leprosy found that the rs1800629(A) allele was more common (odds ratio = 2.69, p=0.04). [PMID 17624216}
  • Nasal polyps
    • The rs1800629(A;G) genotype was associated with increased risk for nasal polyps in a study of 82 Turkish patients. [PMID 17638785]
    • Another study found a nearly doubled risk for rs1800629(A) carriers (odds ratio, 1.86; confidence interval, 1.4-3.09). [PMID 19405090]
  • Psoriasis
    • A study of 160 Polish patients indicated that the rs1800629(A) allele frequency was significantly decreased among patients with early-onset psoriasis (7.5% vs. 15.4%, p=0.022). [PMID 17553030]
    • In contrast, 147 Irish patients with psoriasis were studied and the results indicated that the rs1800629(A;A) genotype was associated with increased risk as well as earlier onset of psoriasis. [PMID 12746914]
  • Sarcoidosis
    • In a pooled analysis of seven case-control studies, the odds ratio for sarcoidosis for carriers of the rs1800629(A) allele was either 1.47 (CI 1.03-2.08 under a dominant model) or 1.39 (CI: 0.67-2.90; under a recessive model). [PMID 17768594]
  • Susceptibility to sepsis
    • A study of 159 patients with severe trauma indicated that the rs1800629(A) allele was associated with higher risk of developing sepsis and of dying (odds ratio 7.65, two-sided p = 1.9 x 10-6). The authors of this research suggest that preemptive anti-inflammatory interventions should be developed for use in carriers of this SNP should they suffer severe injuries. [PMID 18434886]
    • A meta-analysis of 25 studies concluded that while rs1800629 status is significantly associated with risk for sepsis, especially among Asians, it was not associated with mortality from sepsis. However, there may be an increased risk for fatal outcomes among Asians (odds ratio 10.75, CI: 3-39, p < 0.01).[PMID 19789454]
  • Systemic lupus erythematosus (SLE)
    • A study of 120 Columbian patients with SLE found an increased risk for rs1800629(A) carriers (odds ratio 3.9, CI: 1.65-5.80, p= 0.0004). [PMID 17711410]
    • A meta-analysis of 21 studies indicated that in European populations, the rs1800629(A) allele is associated with increased risk for systemic lupus erythematosus (SLE). In Europeans, the oodds ratio for the (A;A) genotype was 4.0, CI: 2.5-6.4, p<0.001. No association was detected in Asian-derived populations. The overall odds ratio for rs1800629(A) carriers was 2.0 (CI: 1.3-3.1, p<0.001). [PMID 16418737]


[PMID 19419979] Preliminary Evidence of a Genetic Association Between Tumor Necrosis Factor Alpha and the Severity of Sleep Disturbance and Morning Fatigue

[PMID 19654554] The Major Histocompatibility Complex Conserved Extended Haplotype 8.1 in AIDS-Related Non-Hodgkin Lymphoma

[PMID 19167443] Family-based analysis of tumor necrosis factor and lymphotoxin-alpha tag polymorphisms with type 1 diabetes in the population of South Croatia



[PMID 19233472] Long-range linkage on chromosome 6p of VEGF, FKBP5, HLA and TNF alleles associated with transplant rejection


[PMID 20132806] Study of TNFalpha -308 G/A and IL6 -174 G/C polymorphisms in type 2 diabetes and obesity risk in the Tunisian population


[PMID 20157068] Association of IL1A, IL1B, and TNF Gene Polymorphisms With Chronic Rhinosinusitis With and Without Nasal Polyposis: A Replication Study

[PMID 19773451] Role of inflammation gene polymorphisms on pain severity in lung cancer patients

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


[PMID 20080841] Additive effect of polymorphisms in the IL-6, LTA, and TNF-{alpha} genes and plasma fatty acid level modulate risk for the metabolic syndrome and its components

[PMID 20357201] Association of Polymorphisms of Tumor Necrosis Factor and Tumor Protein p53 with Primary Open Angle Glaucoma: A Replication Study of Ten Genes in A Chinese Population

[PMID 20522203] Age- and gender-specific association between ADA (22G>A) and TNF-alpha (-308G>A) genetic polymorphisms

[PMID 20459604] Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes

[PMID 20578265] Carriage of a tumor necrosis factor polymorphism amplifies the cytotoxic T-lymphocyte antigen 4 attributed risk of primary biliary cirrhosis: Evidence for a gene-gene interaction

[PMID 20682333] Associations between the TNF-alpha gene (-308G-->A) and event-related potential indices of attention and mental rotation

[PMID 20087644] Genetic variation in chromosomal translocation breakpoint and immune function genes and risk of non-Hodgkin lymphoma

[PMID 20946339] Association between the tumour necrosis factor-? -308G/A polymorphism and chronic obstructive pulmonary disease: An update






[PMID 21080879] A study of TNF-alpha-238 and -308 polymorphisms with different outcomes of persistent hepatitis B virus infection in China

[PMID 21137202] [Polymorphism of cytokine genes and human longevity]

[PMID 20693638] An association study of 21 potential Alzheimer's disease risk genes in a Finnish population


[PMID 21291465] The association of genetic polymorphisms with cerebral palsy: a meta-analysis


[PMID 21447951] Association of Inflammation Genes with Alcohol Dependence/Abuse: A Systematic Review and a Meta-Analysis


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


[PMID 21609779] Association of TNF-? and IL-10 polymorphisms with tuberculosis in Tunisian populations


[PMID 21790707] TUMOUR NECROSIS FACTOR (TNF) GENE POLYMORPHISM AND DISEASE PREVALENCE


[PMID 21357384] Polymorphisms in the TNF-? and IL10 gene promoters and risk of arsenic-induced skin lesions and other nondermatological health effects


[PMID 21995493] TNFRSF1B +676 T>G polymorphism predicts survival of non-Small cell lung cancer patients treated with chemoradiotherapy


[PMID 22031281] Preferential transmission of genetic risk variants of candidate loci at 6p21 from asymptomatic grandparents to mothers of children with neonatal lupus


[PMID 22043116] A review of genetic association studies of obstructive sleep apnea: field synopsis and meta-analysis


[PMID 21865054] Age- and gender-specific epistasis between ADA and TNF-? influences human life-expectancy


[PMID 22475653] Genetic predictors of fatigue in prostate cancer patients treated with androgen deprivation therapy: Preliminary findings


[PMID 22568453] Association of CASP3 polymorphism with hematologic toxicity in advanced NSCLC patients treated with platinum-based chemotherapy


[PMID 22554453] Tumor Necrosis Factor Gene Variation Predicts Hippocampus Volume in Healthy Individuals.


[PMID 22294627] Association between genetic variants in the tumour necrosis factor/lymphotoxin α/lymphotoxin β locus and primary Sjogren's syndrome in Scandinavian samples


[PMID 22788685] Polymorphisms of pro-inflammatory cytokine genes and the risk for acute suppurative or chronic nonsuppurative apical periodontitis in a Colombian population


[PMID 15726497] Gene-environment interaction effects on the development of immune responses in the 1st year of life.


[PMID 15797957] Tumor necrosis factor-alpha polymorphism, bone strength phenotypes, and the risk of fracture in older women.


[PMID 15895461] TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levels.


[PMID 16046815] Data-mining analysis suggests an epigenetic pathogenesis for type 2 diabetes.


[PMID 16385446] A testing framework for identifying susceptibility genes in the presence of epistasis.


[PMID 16449530] Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma.


[PMID 16617143] Algorithm for automatic genotype calling of single nucleotide polymorphisms using the full course of TaqMan real-time data.


[PMID 16672072] The interferon gamma gene polymorphism +874 A/T is associated with severe acute respiratory syndrome.


[PMID 16759385] Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA).


[PMID 16820586] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.


[PMID 16846490] Lemierre's syndrome and genetic polymorphisms: a case report.


[PMID 16872485] Three allele combinations associated with multiple sclerosis.


[PMID 17054776] The genetics of chronic obstructive pulmonary disease.


[PMID 17174749] Linkage disequilibrium with predisposing DR3 haplotypes accounts for apparent effects of tumor necrosis factor and lymphotoxin-alpha polymorphisms on type 1 diabetes susceptibility.


[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 17510437] Immune mechanisms in non-Hodgkin lymphoma: joint effects of the TNF G308A and IL10 T3575A polymorphisms with non-Hodgkin lymphoma risk factors.


[PMID 17668374] Combining evidence of natural selection with association analysis increases power to detect malaria-resistance variants.


[PMID 17701899] Flexible design for following up positive findings.


[PMID 17705862] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.


[PMID 18041006] Association of TGF-beta1 codon 25 (G915C) polymorphism with hepatitis C virus infection.


[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 18307517] Common studied polymorphisms do not affect plasma cytokine levels upon endotoxin exposure in humans.


[PMID 18319718] Tumour-necrosis factor-A polymorphisms and gastric cancer risk: a meta-analysis.


[PMID 18398712] No association found between the promoter variants of TNF-alpha and diabetic retinopathy in Chinese patients with type 2 diabetes.


[PMID 18423522] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.


[PMID 18426866] Association of FTO with obesity-related traits in the Cebu Longitudinal Health and Nutrition Survey (CLHNS) Cohort.


[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.


[PMID 18515978] Association of tumor necrosis factor -308G/A promoter polymorphism with schizophrenia and bipolar affective disorder in a Polish population.


[PMID 18520591] Sequence variants in host cell factor C1 are associated with Meniere's disease.


[PMID 18551993] SNP combinations in chromosome-wide genes are associated with bone mineral density in Taiwanese women.


[PMID 18575614] Association between LTA, TNF and AGER polymorphisms and late diabetic complications.


[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 18615156] Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.


[PMID 18620570] The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency.


[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 18640487] Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation.


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


[PMID 18698679] Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk.


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


[PMID 18713756] Association of the tumour necrosis factor-308 variant with differential response to anti-TNF agents in the treatment of rheumatoid arthritis.


[PMID 18715339] Associations between cytokine/cytokine receptor single nucleotide polymorphisms and humoral immunity to measles, mumps and rubella in a Somali population.


[PMID 18796628] Etiologic heterogeneity among non-Hodgkin lymphoma subtypes.


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


[PMID 18811622] Association of TNF-alpha with severe respiratory syncytial virus infection and bronchial asthma.


[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 19035456] Adipokine genes and prostate cancer risk.


[PMID 19035492] Cytokine gene polymorphisms as risk and severity factors for juvenile dermatomyositis.


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


[PMID 19126646] Genetic polymorphisms in the cytokine genes and risk of hepatocellular carcinoma in low-risk non-Asians of USA.


[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19147066] Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality.


[PMID 19225544] Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis.


[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.


[PMID 19281305] Tumor necrosis factor and lymphotoxin-alpha polymorphisms and severe malaria in African populations.


[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.


[PMID 19347053] Analysis of inflammation- and atherosclerosis-related gene polymorphisms in branch retinal vein occlusion.


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


[PMID 19401444] Body iron stores and glucose intolerance in premenopausal women: role of hyperandrogenism, insulin resistance, and genomic variants related to inflammation, oxidative stress, and iron metabolism.


[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 19438866] Polymorphisms in genes involved in DNA repair, cell growth, oxidative stress and inflammatory response, and melanoma risk.


[PMID 19478423] Cytokine response to vitamin E supplementation is dependent on pre-supplementation cytokine levels.


[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 19661089] Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China.


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


[PMID 19700502] Synopsis and synthesis of candidate-gene association studies in chronic lymphocytic leukemia: the CUMAGAS-CLL information system.


[PMID 19732761] Tumor necrosis factor alpha (TNF-alpha) polymorphisms in Chinese patients with Graves' disease.


[PMID 19933216] The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.


[PMID 19934104] Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations.


[PMID 20007930] A functional haplotype in the 3'untranslated region of TNFRSF1B is associated with tuberculosis in two African populations.


[PMID 20031567] An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.


[PMID 20047977] Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) polymorphisms and risk of non-Hodgkin lymphoma in the InterLymph Consortium.


[PMID 20049212] Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS).


[PMID 20113413] Cytokine polymorphism in patients with migraine: some suggestive clues of migraine and inflammation.


[PMID 20206339] Tumor necrosis factor alpha gene variants do not display allelic imbalance in circulating myeloid cells.


[PMID 20361391] The rs1800629 polymorphism in the TNF gene interacts with physical activity on the changes in C-reactive protein levels in the Finnish Diabetes Prevention Study.


[PMID 20396431] Genotyping sleep disorders patients.


[PMID 20401335] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.


[PMID 20463618] Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.


[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


[PMID 20668555] Extended LTA, TNF, LST1 and HLA gene haplotypes and their association with rubella vaccine-induced immunity.


[PMID 20725607] CCL3 genotype and current depression increase risk of HIV-associated dementia.


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


[PMID 20810691] Variations in the TNF-alpha gene (TNF-alpha -308G-->A) affect attention and action selection mechanisms in a dissociated fashion.


[PMID 20811626] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.


[PMID 20878356] Role of ethnic variations in TNF-alpha and TNF-beta polymorphisms and risk of breast cancer in India.


[PMID 21320344] Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population.


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


[PMID 21420089] TNFA -308 (rs1800629) polymorphism is associated with a higher risk of cardiovascular disease in patients with rheumatoid arthritis.


[PMID 21448414] Molecular mechanism of glucocorticoid resistance in inflammatory bowel disease.


[PMID 21621860] Association of IL1A, IL1B, ILRN, IL6, IL10 and TNF-alpha polymorphisms with risk and clinical course of multiple sclerosis in a Polish population.


[PMID 21670964] Association between TNF-alpha polymorphisms and cervical cancer risk: a meta-analysis.


[PMID 21735105] TNF-308 gene polymorphism and tuberculosis susceptibility: a meta-analysis involving 18 studies.


[PMID 21846573] Association between genetic risk score and periodontitis onset and progression: a pilot study.


[PMID 21880580] Interaction between functional polymorphic variants in cytokine genes, established risk factors and susceptibility to basal cell carcinoma of skin.


[PMID 21967963] TNF-alpha -308 G>A polymorphism and weight gain in patients with schizophrenia under long-term clozapine, risperidone or olanzapine treatment.


[PMID 22070425] Profile of inflammatory mediators in gestational diabetes mellitus: phenotype and genotype.


[PMID 22372709] Cytokine gene polymorphisms in the susceptibility to acute coronary syndrome.


[PMID 22376040] Gene-gene interactions between candidate gene polymorphisms are associated with total IgE levels in Korean children with asthma.


[PMID 22684480] Identifying and testing candidate genetic polymorphisms in the irritable bowel syndrome (IBS): association with TNFSF15 and TNFalpha


[PMID 23029405] Genetic Variation in the TNF Gene Is Associated with Susceptibility to Severe Sepsis, but Not with Mortality


[PMID 23072573] Multiplex Allele-Specific Amplification from Whole Blood for Detecting Multiple Polymorphisms Simultaneously


GET Evidence
rs1800629
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.140715
summary



[PMID 23241556] Haplotype of Single Nucleotide Polymorphisms in Exon 6 of the MZF-1 Gene and Alzheimer's Disease


[PMID 23487197] Association of Interleukin 2 (IL-2), Interleukin 6 (IL-6), and TNF-alpha (TNFα) Gene Polymorphisms With Paranoid Schizophrenia in a Polish Population

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