rs2069812
This is a upstream gene variant variant in the IL5 gene.
▶Research that mentions this SNP (4)
▶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.
▶Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association ConsortiumAssociationN=83,087Jieping Lei et al.(2016)· Human Genetics
A pooled analysis of 42,510 breast cancer cases and 40,577 controls from the Breast Cancer Association Consortium examined genetic variation in 3,595 SNPs across 133 immunosuppression pathway genes. The study identified SNP rs1905339 in STAT3 as significantly associated with increased breast cancer risk (OR 1.05, p=1.4×10⁻⁶). Gene-level analyses showed STAT3, IL5, and GM-CSF as novel susceptibility loci for breast cancer in women of European ancestry.
▶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.
About IL5
This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq, Jul 2013]
View all IL5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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