rs1800925
This is a upstream gene variant variant in the IL13 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
atopic eczema
▶ClinVar annotation
▶Research that mentions this SNP (7)
▶Association of HLA-DQ and IL13 gene variants with challenge-proven shrimp allergy in West Bengal, IndiaAssociationN=503Arghya Laha et al.(2020)· Immunogenetics
This case-control association study examined HLA-DQ rs9275596, IL13 rs20541, and IL13 rs1800925 polymorphisms in 378 shrimp-allergic patients and 125 controls from West Bengal, India. Risk genotypes HLA-DQ rs9275596 CC (OR=2.88, P=0.04), IL13 rs20541 AA (OR=3.60, P=0.01), and IL13 rs1800925 TT (OR=5.48, P=0.03) were significantly associated with challenge-proven shrimp allergy and elevated shrimp-specific IgE levels. The IL13 TA haplotype showed significant association with shrimp allergy and had synergistic effects with the HLA-DQ CC genotype in elevating specific IgE (P=0.03).
▶Genetic polymorphism patterns suggest a genetic driven inflammatory response as pathogenesis in appendicitisAssociationN=343Jan Dimberg et al.(2020)· International Journal of Colorectal Disease
This case-control study analyzes 28 SNPs in 26 inflammatory response genes in 343 patients (100 with appendicitis, 243 controls) using TaqMan genotyping. Significant associations were found for IL-13 rs1800925 (OR=6.02, 95% CI 1.52-23.78), IL-17 rs2275913 (OR=2.38, 95% CI 1.24-4.57), and CCL22 rs223888 (OR=0.12, 95% CI 0.02-0.90), suggesting a genetic-driven inflammatory response as a pathogenic mechanism in appendicitis.
▶Single nucleotide polymorphisms of IL-13 and CD14 genes in allergic rhinitis: a meta-analysisMeta-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.
▶Association of single nucleotide polymorphisms in IL8 and IL13 with sunitinib-induced toxicity in patients with metastatic renal cell carcinomaAssociationN=374Meta H. M. Diekstra et al.(2015)· European Journal of Clinical Pharmacology
This pharmacogenetic study of 374 patients with metastatic renal cell carcinoma examined SNP associations with sunitinib-induced toxicity. The IL8 rs1126647 T allele was associated with increased hypertension risk (OR=1.69, P=0.024), and the IL13 rs1800925 T allele was associated with increased leukopenia (OR=6.76, P=0.020) and grade >2 toxicity (OR=1.75, P=0.028). No significant associations were found with progression-free survival, overall survival, or clinical response.
▶Genetic polymorphisms in IL10RA and TNF modify the association between blood transfusion and risk of non‐Hodgkin lymphomaAssociationN=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).
▶Common variants in genes that mediate immunity and risk of multiple myelomaAssociationN=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.
▶Evaluation of interleukin 13 polymorphisms in systemic sclerosisAssociationN=277Brigitte Granel et al.(2006)· Immunogenetics
This case-control study evaluated four IL13 gene polymorphisms (rs1800925, rs847, rs20541, and rs2243204) in 107 systemic sclerosis (SSc) patients and 170 controls. Two IL13 polymorphisms were associated with SSc: rs1800925 (IL13-1055) and rs2243204 showed associations in both total and diffuse cutaneous SSc populations (p=0.03-0.04). The rs2243204 T allele was more frequent in SSc patients overall (OR=2.3, 95% CI 1.21-4.38) and in diffuse cutaneous SSc (OR=2.95, 95% CI 1.35-6.49), suggesting IL13 polymorphisms may contribute to SSc susceptibility and phenotypic expression.
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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