rs1295686

This is a regulatory region variant variant in the IL13 gene.

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GWAS Catalog Trait Associations (4)

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

atopic eczema

Weidinger S et al. “A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.” Human Molecular Genetics 22(23):4841-56 (2013)
Allele A
OR 1.38
p 2.0e-17
N 5,617
Large GWAS
European
Chen Y et al. “Genome-Wide Integration of Genetic and Genomic Studies of Atopic Dermatitis: Insights into Genetic Architecture and Pathogenesis.” The Journal of Investigative Dermatology 142(11):2958-2967.e8 (2022)
Allele A
OR 0.08
p 3.0e-16
N 837,496
Large GWAS
multi-ancestry
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele A
OR 0.81
p 1.0e-9
N 212,036
Large GWAS
East Asian
Baurecht H et al. “Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.” American Journal of Human Genetics 96(1):104-20 (2015)
Allele A
OR 1.35
p 5.0e-9
N 5,946
Large GWAS
European

psoriasis

Liu S et al. “Novel genetic insight for psoriasis: integrative genome-wide analyses in 863 080 individuals and proteome-wide Mendelian randomization.” Briefings in Bioinformatics 26(1) (2024)
Allele T
OR 0.12
p 1.0e-14
N 863,080
Large GWAS
European

serum IgE amount

Daya M et al. “Multiethnic genome-wide and HLA association study of total serum IgE level.” The Journal of Allergy and Clinical Immunology 148(6):1589-1595 (2021)
Allele C
OR —
p 2.0e-13
N 21,901
Large GWAS
multi-ancestry

asthma

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.08
p 3.0e-8
N 175,948
Large GWAS
East Asian
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Research that mentions this SNP (4)

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Cytokine and cytokine receptor genes of the adaptive immune response are differentially associated with breast cancer risk in American women of African and European ancestry
AssociationN=4,186Lei Quan et al.(2014)· International Journal of Cancer

Case-control study of 1,514 women (Stage I) replicated in 2,672 women (Stage II) examining 47 SNPs in 26 cytokine and cytokine receptor genes of the adaptive immune response pathway associated with breast cancer risk. The study identified differential associations by ancestry, with five SNPs showing highly significant combined effect in African American women (P-trend=0.0005), where individuals with 3+ protective genotypes had approximately 50% reduced breast cancer risk. Key associated SNPs included rs1041981, rs1800469, rs2243250, and others in immune response genes including IL4, IL4R, IL10RA, TGFB1, and IL13.

Traits studied:Breast cancerER negative breast cancerER positive breast cancer
PubMedDOIMetascience Observatory
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Genetic polymorphisms in IL10RA and TNF modify the association between blood transfusion and risk of non‐Hodgkin lymphoma
AssociationN=1,023Xiaofeng Bi et al.(2012)· American Journal of Hematology

Population-based case-control study of Connecticut women showing that genetic polymorphisms in IL10RA (rs9610) and TNF (rs1800629) genes modify the association between blood transfusion and non-Hodgkin lymphoma (NHL) risk. IL10RA rs9610 GG genotype carriers with transfusion history had increased NHL risk (OR=1.9, 95% CI: 1.1-3.2), while AG/AA carriers had decreased risk (OR=0.6, 95% CI: 0.4-0.9), with significant gene-transfusion interaction (P=0.003).

Traits studied:B-cell lymphomaDiffuse large B-cell lymphomaFollicular lymphomaMarginal zone B-cell lymphomaNon-Hodgkin lymphomaSmall lymphocytic lymphoma/chronic lymphocytic leukemiaT-cell lymphoma
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
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Common variants in genes that mediate immunity and risk of multiple myeloma
AssociationN=672Elizabeth E. Brown et al.(2007)· International Journal of Cancer

A case-control study of 127 multiple myeloma (MM) cases and 545 controls examined 82 common variants in 45 genes mediating immunity. IL4R rs2107356 (−28120T homozygotes, OR=1.91, 95% CI 1.08-3.38) and FCGR2A rs1801274 (−120G homozygotes, OR=1.95, 95% CI 1.06-3.60) were significantly associated with increased MM risk. A haplotype in the LTA*TNF complex (LTA −82C/−90G*TNF −1036C/−487G/−417G, OR=1.63, 95% CI 1.02-2.61) was also associated with increased MM risk compared to controls.

Traits studied:Multiple myeloma
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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