rs1554286

This is a regulatory region variant variant in the IL10 gene.

ClinVar annotation

Benign☆☆☆
3 submitters2 publications

Inflammatory bowel disease; not specified

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Research that mentions this SNP (3)

Variation in genes involved in the immune response and prostate cancer risk in the placebo arm of the Prostate Cancer Prevention Trial
AssociationN=1,729Winchester DA et al.(2015)· The Prostate

This prospective case-control study examined genetic variation in immune response genes and prostate cancer risk in the Prostate Cancer Prevention Trial (PCPT) placebo arm. Among 881 cases and 848 controls, the minor allele of rs3212227 in IL12(p40) was associated with increased prostate cancer risk (OR=1.30, 95% CI 1.10-1.53, P-trend=0.0017), particularly for lower-grade disease. The minor alleles of IL10 tagSNPs rs3021094 (OR=1.31, 95% CI 1.03-1.66, P-trend=0.03) and rs1800890 (OR=0.87, 95% CI 0.75-0.99, P-trend=0.04) showed significant associations. The study investigated whether observed associations were explained by PSA-associated detection bias and found that associations persisted in men with low PSA levels.

Traits studied:Prostate cancerProstate cancer (higher-grade)Prostate cancer (lower-grade)
Association study of IL10 and IL23R–IL12RB2 in Iranian patients with Behçet's disease
FunctionalN=14Joana M. Xavier et al.(2012)· Arthritis & Rheumatism

This is a Turkish master's thesis investigating the relationship between the rs924080 variant in the IL23R-IL12RB2 intergenic region (previously identified as Behçet's disease-associated in GWAS studies, P<0.0001) and IL23R/IL12RB2 gene expression in healthy volunteers. The study examined 14 healthy subjects (6 heterozygous AG, 4 homozygous AA, 4 GG control for the risk A allele) and found that the rs924080 A risk allele significantly enhanced IL-23R stimulation responses and IL-6 cytokine production, suggesting a modulatory role in Th17 and IL-6 responses implicated in Behçet's disease pathogenesis.

Traits studied:Behçet's disease
Association of IL10 and Other immune response‐ and obesity‐related genes with prostate cancer in CLUE II
AssociationN=516Ming‐Hsi Wang et al.(2009)· The Prostate

Nested case-control study of 258 prostate cancer cases and 258 matched controls in the CLUE II prospective cohort examining genetic variants in inflammation and obesity-related genes. The IL10 -1082G>A variant (rs1800896, A allele) was positively associated with prostate cancer risk (AG vs GG: OR=1.69, 95% CI 1.10-2.60; AA vs GG: OR=1.81, 95% CI 1.11-2.96), while a TLR4 variant (rs4986790) showed inverse association, and no consistent associations were found for obesity-related gene variants.

Traits studied:Prostate cancer

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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