rs848

This variant is located in the IL13 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

atopic eczema

Ellinghaus D et al. “High-density genotyping study identifies four new susceptibility loci for atopic dermatitis.” Nature Genetics 45(7):808-12 (2013)
Allele T
OR 1.40
p 8.0e-28
N 7,874
Large GWAS
European

allergic disease

Ferreira MA et al. “Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.” Nature Genetics 49(12):1752-1757 (2017)
Allele A
OR 1.07
p 2.0e-24
N 360,838
Large GWAS
European

psoriatic arthritis

Soomro M et al. “Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling.” Arthritis & Rheumatology (hoboken, N.j.) 74(9):1535-1543 (2022)
Allele C
OR 1.28
p 9.0e-16
N 26,351
Large GWAS
European

alopecia areata

Betz RC et al. “Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.” Nature Communications 6:5966 (2015)
Allele A
OR 1.27
p 5.0e-9
N 7,565
Meta-analysis
European

asthma

Olafsdottir TA et al. “Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.” Nature Communications 11(1):393 (2020)
Allele A
OR 1.09
p 5.0e-29
N 771,388
Large GWAS
European
Valette K et al. “Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank.” Communications Biology 4(1):700 (2021)
Allele A
OR 0.10
p 6.0e-30
N 408,422
Major Consortium StudyLarge GWAS
European
Han Y et al. “Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.” Nature Communications 11(1):1776 (2020)
Allele A
OR 1.11
p 1.0e-39
N 303,859
Large GWAS
European
Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele A
OR —
p 8.0e-29
N 281,699
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (2)

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Single nucleotide polymorphisms of IL-13 and CD14 genes in allergic rhinitis: a meta-analysis
Meta-analysisN=15,428Min-Li Chen et al.(2018)· European Archives of Oto-Rhino-Laryngology

A meta-analysis of 21 case-control studies examining IL-13 and CD14 gene polymorphisms in allergic rhinitis (AR). The A allele of IL-13 SNP rs20541 was significantly associated with increased AR risk in Asians (OR 1.21, 95% CI 1.11-1.32, P<0.001) but not in Caucasians. No significant associations were found for IL-13 rs1800925 or CD14 rs2569190 with AR risk in either ethnic group.

Traits studied:Allergic rhinitis
PubMedDOIMetascience Observatory
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The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations
AssociationN=3,608Matthew P. Johnson et al.(2009)· Human Genetics

A genetic association study identified the ERAP2 gene as a novel preeclampsia susceptibility locus on chromosome 5q using SNP genotyping in Australian/New Zealand families (n=480) and an independent Norwegian case-control cohort (1,139 cases, 2,269 controls). ERAP2 variants rs2549782 (Australian cohort, p uncorr=0.004, p corr=0.018) and rs17408150 (Norwegian cohort, p uncorr=0.009, p corr=0.039) showed significant experiment-wide corrected associations with preeclampsia. ERAP1 variants also showed borderline associations (rs3734016, p uncorr=0.009 in Australia; rs34750, p uncorr=0.011 in Norway).

Traits studied:Preeclampsia
PubMedDOIMetascience Observatory

About IL13

This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, IL3, IL5, IL4, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL4. [provided by RefSeq, Jul 2008]

View all IL13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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