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From SNPedia

Geno Mag Summary
(A;A) complex; generally higher risk for certain diseases
(A;G) complex; generally higher risk for certain diseases
(G;G) 0 complex; generally normal risk
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs361525
1000 genomesrs361525
GWAS Ctlgrs361525
Max Magnitude0

rs361525 is also known as the TNF-238 SNP, and occasionally the rs361525(A) allele is referred to as 238.2 (with the more common (G) allele being 238.1). This SNP in the tumor necrosis factor-alpha gene has been linked to a wide variety of conditions:

  • Breast cancer
    • A large study of over 5,000 Caucasian women found that rs361525(A) allele carriers were at somewhat elevated risk for breast cancer compared to the (G;G) genotype, with an odds ratio per allele of 1.18, CI: 1.04-1.35, p(trend)= 0.008.[PMID 17216494]
    • However, a 2009 European study of 30,000 breast cancer cases, compared to 30,000 controls, found no association, or as they put it, "persuasive evidence against an overall association between invasive breast cancer risk and (this SNP)". [PMID 19423537OA-icon.png]
  • Graft versus host disease (GVHD)
    • A study of ~100 allogeneic haematopoietic stem cell transplant recipients in Brazil concludes that graft versus host disease (GVHD) is about twice as frequent if either the donor or the recipient is a carrier of the rs361525(A) allele. [PMID 18021367]
  • Otitis or ear infections
    • Children who are rs361525(G;G) homozygotes may be more prone to ear infections; adjusted odds ratio 2.29, p=0.03). [PMID 17908769]
  • Nasal polyps
    • The rs361525(A;A) genotype was associated with increased risk for nasal polyps in a study of 82 Turkish patients. [PMID 17638785]
  • Psoriasis
    • A study of 160 Polish psoriasis patients indicated that the frequency of the rs361525(A) allele was significantly increased (16.8% vs. 3.1%, p=0.000017, odds ratio 8.79, CI: 2.606-29.678), and furthermore, the onset age was lower in rs361525(A) carriers. [PMID 17553030]
  • Diabetes and verbal memory
    • rs361525(A) carriers showed a slower decline of verbal memory over a period of 48 weeks in a study of elderly patients with type-2 diabetes. [PMID 17592954]
  • Lymphoma
    • A US study [PMID 17018637] of 1,172 lymphoma patients and 982 controls looked at 57 SNPs in 36 immune function genes. Five SNPs in two cytokine genes, tumor necrosis factor-alpha and lymphotoxin-alpha, were associated with a 1.31x increase in non-Hodgkin lymphoma (OR, 1.31; 95% CI, 1.06-1.63; P = 0.01) and with a 1.64x increase in the subtype known as diffuse large B cell lymphoma (OR, 1.64; 95% CI, 1.23-2.19; P = 0.0007). The other four SNPS are listed below. The cytokine genes affect inflammatory and innate immune responses.

[PMID 18949133] Association of TNF promoter polymorphisms with type 1 diabetes in the South Croatian population

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

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

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

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

[PMID 20953524] Tumor necrosis factor rs361525 (-238G>A) polymorphism contributes to hepatocellular carcinoma susceptibility

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

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


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

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

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

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

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

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

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

[PMID 16872485OA-icon.png] Three allele combinations associated with multiple sclerosis.

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

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

[PMID 17450233OA-icon.png] Parental smoking modifies the relation between genetic variation in tumor necrosis factor-alpha (TNF) and childhood asthma.

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

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

[PMID 17940599OA-icon.png] Assembly of inflammation-related genes for pathway-focused genetic analysis.

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

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

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

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

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

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

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

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

[PMID 18990758OA-icon.png] Genetic variation in tumor necrosis factor and the nuclear factor-kappaB canonical pathway and risk of non-Hodgkin's lymphoma.

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

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

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

[PMID 19193698OA-icon.png] Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate.

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

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

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

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

[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.

[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 19729864OA-icon.png] Association of genetic variation in serum amyloid-A with cardiovascular disease and interactions with IL6, IL1RN, IL1beta and TNF genes in the Cardiovascular Health Study.

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

[PMID 20078877OA-icon.png] Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.

{{PMID Auto |PMID=20299531 |Title=Tumor necrosis factor-{alpha} rs361525 polymorphism is associated with increased local production and downstream inflammation in chronic obstructive pulmonary disease. }}

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

[PMID 20811626OA-icon.png] 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 21385363OA-icon.png] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.

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

[PMID 23073259] The tumor necrosis factor-α gene -238 G>A polymorphism, dietary fat intake, obesity risk and serum lipid concentrations in black and white South African women

[PMID 22554453] Tumor necrosis factor gene variation predicts hippocampus volume in healthy individuals

[PMID 23906902] Tumor necrosis factor-308 polymorphism increases the embryo implantation rate in women undergoing in vitro fertilization

[PMID 23919499] Associations between tumor necrosis factor-alpha gene -238 G/A and -308 G/A polymorphisms and the risk of pneumoconiosis: update of a meta-analysis

[PMID 24003507] [Analysis of the -238(G/A)TNF polymorphism in breast cancer patients]

[PMID 24069456OA-icon.png] A TNF Variant that Associates with Susceptibility to Musculoskeletal Disease Modulates Thyroid Hormone Receptor Binding to Control Promoter Activation

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

[PMID 24160187OA-icon.png] Meta-analysis confirms association between TNFA-G238A variant and JIA, and between PTPN22-C1858T variant and oligoarticular, RF-polyarticular and RF-positive polyarticular JIA

[PMID 24252077] Association of the tumour necrosis factor-α polymorphisms rs361525 and rs1800629 with susceptibility to psoriasis: a meta-analysis

[PMID 24361409] Genetic variation in TNFA predicts protection from severe bacterial infections in patients with end-stage liver disease awaiting liver transplantation

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

[PMID 22808100OA-icon.png] Functional differences exist between TNFalpha promoters encoding the common -237G SNP and the rarer HLA-B*5701-linked A variant.

[PMID 23011034] Effect of the polymorphisms of tumor necrosis factor-alpha gene on the susceptibility to primary biliary cirrhosis: a meta-analysis.

[PMID 23021043] Genetics of Behcet's disease in Sardinia: two distinct extended HLA haplotypes harbour the B*51 allele in the normal population and in patients.

[PMID 23029430OA-icon.png] Prognostic role of host cyclooxygenase and cytokine genotypes in a Caucasian cohort of patients with gastric adenocarcinoma.

[PMID 23133602OA-icon.png] Pharmacogenetics of efficacy and safety of HCV treatment in HCV-HIV coinfected patients: significant associations with IL28B and SOCS3 gene variants.

[PMID 23590430] Genetic polymorphisms of tumour necrosis factor alpha (TNF-alpha) promoter gene and response to TNF-alpha inhibitors in Spanish patients with inflammatory bowel disease.

[PMID 23748461OA-icon.png] Association analysis of two candidate polymorphisms in the tumour necrosis factor-alpha gene with osteoarthritis in a Chinese population.

[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 25010932OA-icon.png] Association of TNF-α, TNFRSF1A and TNFRSF1B Gene Polymorphisms with the Risk of Sporadic Breast Cancer in Northeast Chinese Han Women

[PMID 25175451] The functional VNTR of IGH enhancer HS1.2 associates with human longevity and interacts with TNFA promoter diplotype in a population of Central Italy

[PMID 25634985] The -308G>A Polymorphism of the TNF Gene is Associated with Proliferative Diabetic Retinopathy in Caucasian-Brazilians with Type 2 Diabetes

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

[PMID 25839939] Genetic association of IL-6, TNF-α and SDF-1 polymorphisms with serum cytokine levels in diabetic foot ulcer

[PMID 26170653OA-icon.png] Identification of genetic variants in the TNF promoter associated with COPD secondary to tobacco smoking and its severity

[PMID 26198819OA-icon.png] Pathogenesis of intracranial aneurysm is mediated by proinflammatory cytokine TNFA and IFNG and through stochastic regulation of IL10 and TGFB1 by comorbid factors

[PMID 24776844] Associations between functional polymorphisms in the NFκB signaling pathway and response to anti-TNF treatment in Danish patients with inflammatory bowel disease

[PMID 25544182] Genetic variation in the promoter region of pro-inflammatory cytokine TNF-α in perinatal HIV transmission from Mumbai, India

[PMID 26846412OA-icon.png] Ancestry informative markers and selected single nucleotide polymorphisms in immunoregulatory genes on preterm labor and preterm premature rupture of membranes: a case control study.

[PMID 27195243OA-icon.png] Association between Tumor Necrosis Factor-α (-238G/A and -308G/A) Gene Polymorphisms and Risk of Ischemic Stroke: A Meta-Analysis.

[PMID 28294290] Genetic Obesity Risk and Attenuation Effect of Physical Fitness in Mexican-Mestizo Population: a Case-Control Study.

[PMID 28633686] Polymorphisms of the TNF-α gene interact with plasma fatty acids on inflammatory biomarker profile: a population-based, cross-sectional study in São Paulo, Brazil.

[PMID 29027627] Association of TNF-α-3959T/C Gene Polymorphisms in the Chinese Population with Intracranial Aneurysms.

[PMID 29056124] Association of ADIPOQ C-11377G (rs266729), TNF-α αG-308A(rs1800629) and TNF-α αG-238A(rs361525) Single Nucleotide Polymorphisms with Type 2 Diabetes Mellitus in Pakistani Population.

[PMID 29388847] The role of TNF alpha polymorphism and expression in susceptibility to nasal polyposis.

[PMID 29406912] TNF-α -308 G/A and -238 G/A promoter polymorphisms and sporadic Parkinson's disease in an Italian cohort.

[PMID 29440561OA-icon.png] Association of TNF-α promoter polymorphism and Graves' disease: an updated systematic review and meta-analysis.

[PMID 29497291OA-icon.png] TNF promoter polymorphisms are associated with genetic susceptibility in COPD secondary to tobacco smoking and biomass burning.

[PMID 30009916] Single nucleotide polymorphisms in cytokine/chemokine genes are associated with severe infection, ulcer grade and amputation in diabetic foot ulcer.

[PMID 30027452] The Potential Role of TNF-α (rs361525 and rs1800629) in Hepatocellular Carcinoma: Multivariate Analysis (Meta-Analysis).

[PMID 30134857OA-icon.png] Preliminary study showing no association between G238A (rs361525) tumor necrosis factor-α (TNF-α) gene polymorphism and its serum level, hormonal and biochemical aspects of polycystic ovary syndrome.

[PMID 30208882OA-icon.png] Genetically determined high activities of the TNF-alpha, IL23/IL17, and NFkB pathways were associated with increased risk of ankylosing spondylitis.

[PMID 32602796] Association of Polymorphisms in Cytokine genes with susceptibility to Precancerous Lesions and Cervical Cancer: A systematic review with meta-analysis.

[PMID 33359288] Polymorphisms in the IL-6 and TNF-α gene are associated with an increased risk of abdominal aortic aneurysm.