rs2222202
This is a intron variant variant in the IL10 gene.
▶Research that mentions this SNP (2)
▶Common gene variants within 3′‐untranslated regions as modulators of multiple myeloma risk and survivalAssociationN=5,016Ombretta Melaiu et al.(2021)· International Journal of Cancer
This case-control study within the IMMEnSE consortium (3,056 MM patients and 1,960 controls) investigated associations between polymorphic 3' untranslated region (p3UTR) variants in six candidate genes and multiple myeloma (MM) risk and overall survival. IL10 rs3024496 A-allele showed significant association with increased MM risk (OR=1.20-1.24) and shorter overall survival (HR=1.42-1.44). Functional studies demonstrated the A-allele decreased IL10 mRNA expression by ~6%, consistent with in vivo GTEx data, suggesting rs3024496 modulates immune homeostasis and disease prognosis in MM.
▶Genetic Dissection of Acute Anterior Uveitis Reveals Similarities and Differences in Associations Observed With Ankylosing SpondylitisAssociationN=14,050Robinson PC et al.(2015)· Arthritis & Rheumatology
Genetic dissection of acute anterior uveitis (AAU) using high-density Immunochip genotyping in 1,711 AAU cases and 10,000 controls identifies HLA-B27 tag SNP rs116488202 (OR=16.8, P<1×10⁻³⁰⁰) as the strongest association, and three genome-wide significant non-MHC loci (IL23R, chromosome 2p15 intergenic region, and ERAP1) shared with ankylosing spondylitis. Five additional suggestive loci including IL10-IL19, IL18R1-IL1R1, IL6R, KIF21B, and EYS are identified, with shared genetic pathways with inflammatory bowel disease suggesting common etiologic mechanisms.
About IL10
The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis. [provided by RefSeq, May 2020]
View all IL10 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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