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rs20541

From SNPedia

Orientationminus
Stabilizedplus
Make rs20541(C;C)
Make rs20541(C;T)
Make rs20541(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position132660272
GeneIL13
is asnp
is mentioned by
dbSNPrs20541
ebirs20541
HLIrs20541
Exacrs20541
Varsomers20541
Maprs20541
PheGenIrs20541
hapmaprs20541
1000 genomesrs20541
hgdprs20541
ensemblrs20541
gopubmedrs20541
geneviewrs20541
scholarrs20541
googlers20541
pharmgkbrs20541
gwascentralrs20541
openSNPrs20541
23andMers20541
23andMe allrs20541
SNP Nexus

SNPshotrs20541
SNPdbers20541
MSV3drs20541
GWAS Ctlgrs20541
GMAF0.2681
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs20541 is a C/T polymorphism on the interleukin 13 gene IL13 associated with IgE levels.

[PMID 18186920OA-icon.png] rs20541 influences the effect of maternal smoking during pregnancy and persistent childhood asthma

[PMID 18417506] rs1295685 and rs20541 were significantly associated with elevated IgE levels in pooled analyses. rs2569190(T;T) and rs2569191(C;C) genotypes associated with lower IgE

23andMe blog psoriasis Europeans rs20541(G) 1.27x risk


[PMID 19254294] Contribution of functional variation in the IL13 gene to allergy, hay fever and asthma in the NSHD longitudinal 1946 birth cohort.

GWAS snp
PMID [PMID 19169254OA-icon.png]
Trait Psoriasis
Title Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways
Risk Allele G
P-val 5E-15
Odds Ratio 1.27 None


[PMID 19533685] Common genetic variants and risk for non-Hodgkin lymphoma and adult T-cell lymphoma/leukemia in Jamaica

OMIM612599
DescPSORIASIS SUSCEPTIBILITY 11; PSORS11
Variant
Relatedalso

[PMID 19796199] Polymorphisms in IL13 pathway genes in asthma and chronic obstructive pulmonary disease



[PMID 20332709] Association analysis of polymorphisms in IL-3, IL-4, IL-5, IL-9 and IL-13 with Graves' disease

[PMID 20403202OA-icon.png] Birth order modifies the effect of IL13 gene polymorphisms on serum IgE at age 10 and skin prick test at ages 4, 10 and 18: a prospective birth cohort study

[PMID 20975284] Case-Control Study of Eczema Associated with IL13 Genetic Polymorphisms in Japanese Children

[PMID 20484924] Interleukin 13 and interleukin 4 receptor-? polymorphisms in rhinitis and asthma


[PMID 21309855OA-icon.png] A meta-analysis of Th2 pathway genetic variants and risk for allergic rhinitis

OMIM147683
Desc
Variant0002
Relatedalso


[PMID 21196282] Single nucleotide polymorphisms in IL-4Ra, IL-13 and STAT6 genes occurs in brain glioma


[PMID 22013915OA-icon.png] IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan


[PMID 22023794OA-icon.png] Case-control study of IL13 polymorphisms, smoking, and rhinoconjunctivitis in Japanese women: the Kyushu Okinawa Maternal and Child Health Study


[PMID 22053598] Association of TGF-beta1, IL-4 and IL-13 gene polymerphisms with asthma in a Chinese population


[PMID 22286212OA-icon.png] Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein-Barr Virus Status-Defined Subgroups

GWAS snp
PMID [PMID 22075330OA-icon.png]
Trait
Title A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
Risk Allele A
P-val 3E-18
Odds Ratio 0.0800 None


[PMID 22419714] Effect of Type 2 Diabetes Predisposing Genetic Variants on Colorectal Cancer Risk


[PMID 22432974] Environmental tobacco smoke and male sex modify the influence of IL-13 genetic variants on cord blood IgE levels


ClinVar
Risk rs20541(C;C)
Alt rs20541(C;C)
Reference rs20541(T;T)
Significance Other
Disease Asthma Allergic rhinitis
Variation info
Gene IL13
CLNDBN Asthma, susceptibility to Allergic rhinitis, susceptibility to
Reversed 1
HGVS NC_000005.9:g.131995964A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015785.2, RCV000015786.2,



[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 16024651OA-icon.png] Polymorphisms associated with asthma are inversely related to glioblastoma multiforme.


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


[PMID 16702372] Associations of classic Kaposi sarcoma with common variants in genes that modulate host immunity.


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


[PMID 16832637] Evaluation of interleukin 13 polymorphisms in systemic sclerosis.


[PMID 17135570OA-icon.png] Localization of a long-range cis-regulatory element of IL13 by allelic transcript ratio mapping.


[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 17346294OA-icon.png] IL13 gene polymorphism association with cord serum immunoglobulin E.


[PMID 17561245] Polymorphisms in IL13, total IgE, eosinophilia, and asthma exacerbations in childhood.


[PMID 17615386] IL13 promoter polymorphism 1112C/T modulates the adverse effect of tobacco smoking on lung function.


[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 18006935] An international case-control study of interleukin-4Ralpha, interleukin-13, and cyclooxygenase-2 polymorphisms and glioblastoma risk.


[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 18075513] Variants in the 5q31 cytokine gene cluster are associated with psoriasis.


[PMID 18410415OA-icon.png] Polymorphisms in the interleukin 13 and GATA binding protein 3 genes and the development of eczema during childhood.


[PMID 18614543OA-icon.png] The 5q31 variants associated with psoriasis and Crohn's disease are distinct.


[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 18778477OA-icon.png] Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.


[PMID 18846228OA-icon.png] Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.


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


[PMID 19262574OA-icon.png] Genome-wide association scan yields new insights into the immunopathogenesis of psoriasis.


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


[PMID 19554022] Association between IL13 polymorphisms and psoriatic arthritis is modified by smoking.


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


[PMID 19840389OA-icon.png] Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria.


[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 19956106OA-icon.png] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.


[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 20298583OA-icon.png] Association of IL-4RA single nucleotide polymorphisms, HLA-DR and HLA-DQ in children with Alternaria-sensitive moderate-severe asthma.


[PMID 20358028OA-icon.png] IL-13 Gene Polymorphisms are Associated With Rhinosinusitis and Eosinophilic Inflammation in Aspirin Intolerant Asthma.


[PMID 20406895OA-icon.png] Genetic variants in inflammation pathway genes and asthma in glioma susceptibility.


[PMID 20606885OA-icon.png] Genetics of psoriasis and psoriatic arthritis.


[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 20952689OA-icon.png] Cytokine polymorphisms in Th1/Th2 pathway genes, body mass index, and risk of non-Hodgkin lymphoma.


[PMID 21253569OA-icon.png] Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?


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


[PMID 21349879OA-icon.png] Evidence to support IL-13 as a risk locus for psoriatic arthritis but not psoriasis vulgaris.


[PMID 21613309] IL13 gene polymorphism is a marker for psoriatic arthritis among psoriasis patients.


[PMID 21913997] Association of polymorphisms in genes encoding IL-4, IL-13 and their receptors with atopic dermatitis in a Korean population.


[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 22201026] Genome-wide pathway analysis of a genome-wide association study on psoriasis and Behcet's disease.


[PMID 22222605] IL-13 polymorphisms contribute to the risk of asthma: a meta-analysis.


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


GET Evidence
IL13-Q144R
aa_change Gln144Arg
aa_change_short Q144R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.81121
summary



[PMID 22534877] Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance


[PMID 23171465] Association between non-atopic hand eczema and interleukin-13 gene polymorphism in Taiwanese nursing population


[PMID 23545317] Association of interleukin-13 SNP rs20541 with allergic rhinitis risk: a meta-analysis


[PMID 23617596] Genetic variants of the genes encoding zinc finger protein 313 and interleukin-13 confer a risk for psoriasis in a Chinese Uygur population


[PMID 23200760] Pathway analysis of genome-wide association study on asthma


[PMID 23299779OA-icon.png] Interleukin-10 gene polymorphisms are associated with freedom from treatment failure for patients with Hodgkin lymphoma


[PMID 23267696OA-icon.png] Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study


[PMID 23954258] Association of Interleukin-13 SNP rs20541 (Arg>Gln) to allergic rhinitis in an Asian population of ethnic Chinese in Singapore


[PMID 23978640] Association of IL-13 gene polymorphisms with airway hyperresponsiveness in a Japanese adult asthmatic population


[PMID 24286397] Association between the interleukin-13 gene and development of chronic obstructive pulmonary disease in southern Chinese Han population: a case-control study

GWAS snp
PMID [PMID 23817569OA-icon.png]
Trait Self-reported allergy
Title A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
Risk Allele A
P-val 1E-6
Odds Ratio .07 [0.043-0.101] unit increase


[PMID 22694930OA-icon.png] Genome-wide association studies of asthma indicate opposite immunopathogenesis direction from autoimmune diseases.


[PMID 23246181] Association between IL13 gene polymorphisms and susceptibility to cancer: a meta-analysis.


[PMID 23395224] Association between polymorphisms in interleukin-4Ralpha and interleukin-13 and glioma risk: a meta-analysis.


[PMID 23462527] IL4R and IL13 polymorphic variants and development of antibodies to surface antigen of hepatitis B virus in hemodialysis patients in response to HBV vaccination or infection.


[PMID 23663310OA-icon.png] Investigating highly replicated asthma genes as candidate genes for allergic rhinitis.


[PMID 23815671OA-icon.png] Interactive effect of STAT6 and IL13 gene polymorphisms on eczema status: results from a longitudinal and a cross-sectional study.


[PMID 25658755OA-icon.png] Association between Polymorphism of the Interleukin-13 Gene and Susceptibility to Hepatocellular Carcinoma in the Chinese Population


[PMID 26258681OA-icon.png] An IL-13 Promoter Polymorphism Associated with Liver Fibrosis in Patients with Schistosoma japonicum


[PMID 26426602] Polymorphisms in the interleukin 4, interleukin 4 receptor and interleukin 13 genes and allergic phenotype: A case control study


[PMID 26516307OA-icon.png] Single Nucleotide Polymorphisms in IL-10, IL-12p40, and IL-13 Genes and Susceptibility to Glioma