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rs20541

Chromosome : 5 , Position: 132660272
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleA
Alternative Alleles:  G

Traits

Trait Variant Impact PMID Author (year)
IgE levels G
J Allergy Clin Immunol Granada M (2011)
Lymphocyte counts G
Cell Vuckovic D (2020)
Asthma G
Nat Genet Demenais F (2017)
Atopic asthma G
J Allergy Clin Immunol Zhu Z (2019)
Childhood asthma with severe exacerbations G
Nat Commun Ahluwalia TS (2020)
Cutaneous psoriasis G
Am J Hum Genet Stuart PE (2015)
Eczema G
Hum Mol Genet Johansson A (2019)
Eczema/dermatitis | non-cancer illness code, self-reported G
Unknown journal UKB Neale v2 (2018)
Hay fever and/or eczema G
Hum Mol Genet Johansson A (2019)
Hodgkin's lymphoma [EBV-negative cHL] G
J Natl Cancer Inst Urayama KY (2012)
Psoriasis G
Nat Commun Yin X (2015)

Summary

rs20541 is a C/T polymorphism on the interleukin 13 gene IL13 associated with IgE levels.

[PMID 18186920] 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.


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

[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 20403202] 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 21309855] A meta-analysis of Th2 pathway genetic variants and risk for allergic rhinitis


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


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


[PMID 22023794] 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 22286212] Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein-Barr Virus Status-Defined Subgroups


[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




[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 16024651] Polymorphisms associated with asthma are inversely related to glioblastoma multiforme.


[PMID 16449530] 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 16759385] 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 17135570] Localization of a long-range cis-regulatory element of IL13 by allelic transcript ratio mapping.


[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 17346294] 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 17705862] 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 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 18075513] Variants in the 5q31 cytokine gene cluster are associated with psoriasis.


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


[PMID 18614543] The 5q31 variants associated with psoriasis and Crohn’s disease are distinct.


[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 18778477] 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 18846228] Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.


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


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


[PMID 19356949] 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 19759553] Genetic and environmental risk factors for childhood eczema development and allergic sensitization in the CCAAPS cohort.


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


[PMID 19956101] Overview of the Rapid Response data.


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


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


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


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


[PMID 20406895] Genetic variants in inflammation pathway genes and asthma in glioma susceptibility.


[PMID 20606885] Genetics of psoriasis and psoriatic arthritis.


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


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


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


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


[PMID 21349879] 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.




[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 23299779] Interleukin-10 gene polymorphisms are associated with freedom from treatment failure for patients with Hodgkin lymphoma


[PMID 23267696] 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


[PMID 22694930] 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 23663310] Investigating highly replicated asthma genes as candidate genes for allergic rhinitis.


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


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


[PMID 26258681] 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 26516307] Single Nucleotide Polymorphisms in IL-10, IL-12p40, and IL-13 Genes and Susceptibility to Glioma

More Information

rs20541 is a G/A polymorphism in the IL13 gene and is associated with IgE levels. 

The AA genotype was significantly related to an increased risk of eczema (OR=2.38) [R]. 

The ''A'' allele was associated with increased odds of allergic rhinitis (AR) in mixed age groups [R]. 

Compared with the GG genotype, the AA genotype, was significantly positively related to the risk of rhinoconjunctivitis: the adjusted odds ratio was 1.65 [R].

The ''A'' allele was significantly associated with asthma [R].

''A'' allele had a reduced risk of colorectal cancer (CRC) (P(trend) = 0.02) [R].

The ''A'' allele was significantly associated with increased eosinophil count (P < .011) and increased serum total IgE (P < .054) [R]. 

The ''G'' allele was susceptible to psoriasis, while the A allele was protective [R].

''A'' allele was significantly associated with protection from psoriatic arthritis (PsA) [R]. 

''A'' allele showed association with development of non-atopic hand eczema  (OR = 3.38) [R]. 

''A'' allele was most strongly associated with susceptibility to Chronic obstructive pulmonary disease (COPD) [R].

The minor allele ''A'' is the risk allele for asthma but the protective allele for psoriasis [R]. 

GA/AA genotypes were significantly associated with reduced risk for glioma (OR = 0.85, GA/AA vs. GG) [R]. 

The GA genotype was significantly related to a decreased risk of hepatocellular carcinoma (HCC)  (OR = 0.54, 95%) [R].

''G'' allele increased the risk of disease progression to late-stage schistosomiasis (OR = 1.46, p = 0.035), whereas ''A'' allele showed a protective role against development of late-stage schistosomiasis (OR = 0.61, p = 0.002) [R].

 

Population Alleles Frequency

ethhicity frequency
African/African-American 0.8212
Latino/Admixed American 0.5554
Ashkenazi Jewish 0.7448
East Asian 0.6665
European 0.7622
Other (population not assigned) 0.7243

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