rs2243250
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 2 | 0.6x decreased risk for myocardial infarction if younger than 50 |
| (T;T) | 2 | 0.33x decreased risk for myocardial infarction if younger than 50 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132673462 |
| Gene | IL4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2243250 |
| dbSNP (classic) | rs2243250 |
| ClinGen | rs2243250 |
| ebi | rs2243250 |
| HLI | rs2243250 |
| Exac | rs2243250 |
| Gnomad | rs2243250 |
| Varsome | rs2243250 |
| LitVar | rs2243250 |
| Map | rs2243250 |
| PheGenI | rs2243250 |
| Biobank | rs2243250 |
| 1000 genomes | rs2243250 |
| hgdp | rs2243250 |
| ensembl | rs2243250 |
| geneview | rs2243250 |
| scholar | rs2243250 |
| rs2243250 | |
| pharmgkb | rs2243250 |
| gwascentral | rs2243250 |
| openSNP | rs2243250 |
| 23andMe | rs2243250 |
| SNPshot | rs2243250 |
| SNPdbe | rs2243250 |
| MSV3d | rs2243250 |
| GWAS Ctlg | rs2243250 |
| GMAF | 0.4844 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2243250 is a SNP in the IL4 gene that is also known as the -589C>T SNP.
In 300 patients younger than 50 years the rs2243250(T) allele was associated with a reduced risk of myocardial infarction (odds ratio 0.57, CI: 0.34-0.95). This result was replicated in another study, where carriers of one or two -589T alleles also had a reduced risk (odds ratio 0.67, CI: 0.47-0.95), with a strong protective effect of the -598T allele in homozygous -589T (odds ratio 0.33, CI: 0.10-1.05).[PMID 18662263]
[PMID 19351467] [Relationship between gene polymorphism of CYP2E1, CYP1A1, IL-4 and medicamentosa-like der-matitis induced by trichloroethylene.]
[PMID 19515749] Favorable impact of the interleukin-4 receptor allelic variant I75 on the survival of diffuse large B-cell lymphoma patients demonstrated in a large prospective clinical trial
[PMID 20403914] Comprehensive analysis of the cytokine rich chromosome 5q31.1 region suggests a role for IL-4 gene variants in prostate cancer risk
[PMID 20921925] Effect of single nucleotide polymorphisms within the interleukin-4 promoter on aspirin intolerance in asthmatics and interleukin-4 promoter activity
[PMID 21195738] Association of an IL4 gene haplotype with Graves disease in children: Experimental study and meta-analysis
[PMID 22512783] Interleukin-4 Genetic Variants Correlate With Its Transcript And Protein Levels In Vitiligo Patients
[PMID 22377791] Association of genetic polymorphisms of interleukins with new-onset diabetes after transplantation in renal transplantation
[PMID 15660293
] No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes.
[PMID 15726497] Gene-environment interaction effects on the development of immune responses in the 1st year of life.
[PMID 16380915] Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.
[PMID 16449530] Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma.
[PMID 16759385] Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA).
[PMID 17303794] Ethnicity-specific gene-gene interaction between IL-13 and IL-4Ralpha among African Americans with asthma.
[PMID 17327408] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.
[PMID 17355643] Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population.
[PMID 17705862] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
[PMID 17855802] Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels.
[PMID 18056382] Analysis of the 5q31 33 locus shows an association between single nucleotide polymorphism variants in the IL-5 gene and symptomatic infection with the human blood fluke, Schistosoma japonicum.
[PMID 18064451] IL4 in the 5q31 context: association studies of type 1 diabetes and rheumatoid arthritis in the Spanish population.
[PMID 18466472] Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm.
[PMID 18466513] Evaluating gene x gene and gene x smoking interaction in rheumatoid arthritis using candidate genes in GAW15.
[PMID 18466554] Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests.
[PMID 18625055] Lack of association or interactions between the IL-4, IL-4Ralpha and IL-13 genes, and rheumatoid arthritis.
[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 18676870] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.
[PMID 18687755] Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18847302] Personalized vaccines: the emerging field of vaccinomics.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[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 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[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 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 19759553] Genetic and environmental risk factors for childhood eczema development and allergic sensitization in the CCAAPS cohort.
[PMID 19956101] Overview of the Rapid Response data.
[PMID 19956102] Evidence for association of the TCF7 locus with type I diabetes.
[PMID 19956109] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.
[PMID 20015396] Innate immunity in ocular Chlamydia trachomatis infection: contribution of IL8 and CSF2 gene variants to risk of trachomatous scarring in Gambians.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20219689] Interleukin-4/interleukin-4 receptor gene polymorphisms in hand osteoarthritis.
[PMID 20416077] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
[PMID 20444268] Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets.
[PMID 20459687] Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.
[PMID 20525402] Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study.
[PMID 20811626] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.
[PMID 21385363] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.
[PMID 21387019] Differences in candidate gene association between European ancestry and African American asthmatic children.
[PMID 21501388] Association between interleukin-4 gene polymorphisms and intracerebral haemorrhage in Korean population.
[PMID 21562768] A study of the impact of cytokine gene polymorphism in acute rejection of renal transplant recipients.
[PMID 21819409] Gene-vitamin D interactions on food sensitization: a prospective birth cohort study.
[PMID 22045834] Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression.
[PMID 22376040] Gene-gene interactions between candidate gene polymorphisms are associated with total IgE levels in Korean children with asthma.
[PMID 22528336] Association study of interleukin-4 polymorphisms with paranoid schizophrenia in the Polish population: a critical approach.
[PMID 22686937] Evidence for a genetic interaction in allergy-related responsiveness to vitamin D deficiency.
[PMID 23245479] The association between the IL-4, ADRβ2 and ADAM 33 gene polymorphisms and asthma in the Taiwanese population
[PMID 23572437] Three common polymorphisms in the IL-4 gene and cancer risk: A meta-analysis involving 5,392 cases and 6,930 controls
[PMID 23651591] Association of polymorphisms in the interleukin-4 gene with response to hepatitis B vaccine and susceptibility to hepatitis B virus infection: a meta-analysis
[PMID 23654077] IL-4 gene polymorphisms and their association with atopic asthma and allergic rhinitis in Pakistani patients
[PMID 23668806] Association of IL-4 and IL-10 maternal haplotypes with immune responses to P. falciparum in mothers and newborns
[PMID 23924473] Association between the polymorphisms of interleukin-4, the interleukin-4 receptor gene and asthma
[PMID 23964553] Relationship between polymorphisms in IL4 and asthma in Japanese women: the Kyushu Okinawa Maternal and Child Health Study
[PMID 24463336] Association of Interleukin-4 genetic polymorphisms with sporadic Alzheimer's disease in Chinese Han population
[PMID 22484276] Effects of cytokine and cytokine receptor gene variation on high anti-HB titers: following up on Taiwan's neonatal hepatitis B immunization program.
[PMID 22652416] Interleukin-4 rs2243250 polymorphism is associated with asthma among Caucasians and related to atopic asthma.
[PMID 22824342] Association of polymorphisms of cytokine and TLR-2 genes with long-term immunity to hepatitis B in children vaccinated early in life.
[PMID 22884982] Polymorphisms in the IL4 gene, smoking, and rhinoconjunctivitis in Japanese women: the Kyushu Okinawa Maternal and Child Health Study.
[PMID 23029430] Prognostic role of host cyclooxygenase and cytokine genotypes in a Caucasian cohort of patients with gastric adenocarcinoma.
[PMID 23376457] Cytokine gene polymorphisms in Tunisian endemic pemphigus foliaceus: a possible role of il-4 variants.
[PMID 23459936] Exploring the genetic basis of chronic periodontitis: a genome-wide association study.
[PMID 23768103] IL-4 -590C/T polymorphism and susceptibility to liver disease: a meta-analysis and meta-regression.
[PMID 23797532] Longitudinal trajectory of vitamin D status from birth to early childhood in the development of food sensitization.
[PMID 25239315] An interleukin-4 polymorphism is associated with susceptibility to Clostridium difficile infection in patients with inflammatory bowel disease: Results of a retrospective cohort study
[PMID 25295591] Role of IL-4 Gene Polymorphisms in HBV-Related Hepatocellular Carcinoma in a Chinese Population
[PMID 25768087] An ADAM33 Polymorphism Associates with Progression of Preschool Wheeze into Childhood Asthma: A Prospective Case-Control Study with Replication in a Birth Cohort Study
[PMID 25785117] Associations between polymorphisms in the IL-4 and IL-4 receptor genes and urinary carcinomas: a meta-analysis
[PMID 26426602] Polymorphisms in the interleukin 4, interleukin 4 receptor and interleukin 13 genes and allergic phenotype: A case control study
[PMID 26448013] High Incidence of Malaria Along the Sino-Burmese Border Is Associated With Polymorphisms of CR1, IL-1A, IL-4R, IL-4, NOS, and TNF, But Not With G6PD Deficiency
[PMID 27472286] CCL2, CCL5, IL4 and IL15 Gene Polymorphisms in Women with Gestational Diabetes Mellitus.
[PMID 29514038] Interleukin-4 gene (IL4) polymorphism rs2243250 is not associated with diabetic nephropathy (DN) in Caucasians with type 2 diabetes mellitus (T2DM).
[PMID 29666343] Interleukin gene polymorphisms and susceptibility to HIV-1 infection: a meta-analysis.
[PMID 30227113] Association study on IL-4, IL-4Rα and IL-13 genetic polymorphisms in Swedish patients with colorectal cancer.
[PMID 31264107] Association between interleukin-4 and interleukin-10 single nucleotide polymorphisms and multiple sclerosis among Iraqi patients.
[PMID 31540745] Validation study of the association between genetic variant of IL4 and severe radiation pneumonitis in lung cancer patients treated with radiation therapy.
[PMID 31816580] Association between polymorphisms of cytokine genes and brucellosis: A comprehensive systematic review and meta-analysis.
[PMID 31900992] Association of cytokine Th2 gene polymorphisms with autoimmune thyroid diseases in Tunisian population.
[PMID 32124801] SNPs and transcriptional activity of genes of innate and adaptive immunity at the maternal-fetal interface in woman with preterm labour, associated with preterm premature rupture of membranes.
