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From SNPedia

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
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs2243250
1000 genomesrs2243250
23andMe allrs2243250
GWAS Ctlgrs2243250
Max Magnitude2
? (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 15660293OA-icon.png] No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes.

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

[PMID 16380915OA-icon.png] 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 16449530OA-icon.png] Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma.

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

[PMID 17303794OA-icon.png] Ethnicity-specific gene-gene interaction between IL-13 and IL-4Ralpha among African Americans with asthma.

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

[PMID 17355643OA-icon.png] Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population.

[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 17855802] Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels.

[PMID 18056382OA-icon.png] 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 18466472OA-icon.png] Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm.

[PMID 18466513OA-icon.png] Evaluating gene x gene and gene x smoking interaction in rheumatoid arthritis using candidate genes in GAW15.

[PMID 18466554OA-icon.png] Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests.

[PMID 18625055OA-icon.png] Lack of association or interactions between the IL-4, IL-4Ralpha and IL-13 genes, and rheumatoid arthritis.

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

[PMID 18687755OA-icon.png] Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.

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

[PMID 18847302OA-icon.png] Personalized vaccines: the emerging field of vaccinomics.

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

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

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

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

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

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

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

[PMID 19759553OA-icon.png] Genetic and environmental risk factors for childhood eczema development and allergic sensitization in the CCAAPS cohort.

[PMID 19956101OA-icon.png] Overview of the Rapid Response data.

[PMID 19956102OA-icon.png] Evidence for association of the TCF7 locus with type I diabetes.

[PMID 19956109OA-icon.png] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

[PMID 20015396OA-icon.png] Innate immunity in ocular Chlamydia trachomatis infection: contribution of IL8 and CSF2 gene variants to risk of trachomatous scarring in Gambians.

[PMID 20041166OA-icon.png] Common genetic variation and the control of HIV-1 in humans.

[PMID 20219689] Interleukin-4/interleukin-4 receptor gene polymorphisms in hand osteoarthritis.

[PMID 20416077OA-icon.png] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.

[PMID 20444268OA-icon.png] Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets.

[PMID 20459687OA-icon.png] Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.

[PMID 20525402OA-icon.png] Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study.

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

[PMID 21387019OA-icon.png] 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 21819409OA-icon.png] 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 23668806OA-icon.png] 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 23029430OA-icon.png] 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 23459936OA-icon.png] 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 23797532OA-icon.png] 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 25295591OA-icon.png] Role of IL-4 Gene Polymorphisms in HBV-Related Hepatocellular Carcinoma in a Chinese Population

[PMID 25768087OA-icon.png] 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 25785117OA-icon.png] 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 26448013OA-icon.png] 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.