rs3135932

This is a variant in the IL10RA gene that changes a serine to an glycine.

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GWAS Catalog Trait Associations (3)

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

interleukin-10 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.24
p 2.0e-201
N 47,745
Large GWAS
European

interleukin-10 receptor subunit alpha measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.18
p 9.0e-99
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
7 submitters2 publications

Inflammatory bowel disease 28; not specified

View on ClinVar →
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Research that mentions this SNP (2)

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Nucleotide variation in IL‐10 and IL‐12 and their receptors and cervical and vulvar cancer risk: A hybrid case–parent triad and case–control study
AssociationN=4,300Shehnaz K. Hussain et al.(2013)· International Journal of Cancer

This hybrid case-parent triad and case-control study examined associations between 76 tagSNPs in IL10 and IL12 cytokine pathway genes (IL10, IL12A, IL12B, IL10RA, IL10RB, IL12RB1, IL12RB2) and cervical/vulvar cancer risk. Key findings include: IL10RA rs9610 (OR=1.76, 95% CI 1.15–2.68) and rs4252314 (OR=2.23, 95% CI 1.26–3.96) associated with increased cervical cancer risk; IL12RB2 rs4297265 (OR=0.46) and rs2229546 (OR=0.43) associated with reduced cervical SCC risk; IL12B rs3181224 associated with reduced vulvar SCC risk (OR=0.30, 95% CI 0.12–0.74); and IL12RB1 rs11575934 (OR=1.51, 95% CI 1.12–2.05) associated with increased cervical adenocarcinoma risk.

Traits studied:Cervical adenocarcinomaCervical squamous cell carcinomaVulvar squamous cell carcinoma
PubMedDOIMetascience Observatory
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TLR4, IL10RA, and NOD2 mutation in paediatric Crohn’s disease patients: an association with Mycobacterium avium subspecies paratuberculosis and TLR4 and IL10RA expression
AssociationN=108Josef Wagner et al.(2013)· Medical Microbiology and Immunology

This study investigated 34 SNPs in 18 Crohn's disease susceptibility genes in 62 pediatric CD patients and 46 controls with known Mycobacterium avium subspecies paratuberculosis (MAP) status. Mutations in TLR4 (rs4986790, Asp299Gly) and IL10RA (rs2229113, Gly330Arg) were significantly associated with MAP-positive CD (27.6% vs 6.1%, p=0.021 and 62.1% vs 33.3%, p=0.024, respectively), with a synergistic interaction (OR=7.39, 95% CI 2.25-24.27). Functional studies showed IL-10 and TNFα production were significantly lower in CD patients with NOD2 mutations, and IL10R and TLR4 receptor expression were elevated on NK cells and NK T cells harboring NOD2 mutations.

Traits studied:Crohn's diseaseMycobacterium avium subspecies paratuberculosis infection
PubMedDOIMetascience Observatory

About IL10RA

The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]

View all IL10RA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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