rs4252249
This variant is located in the IL10RA gene.
▶ClinVar annotation
Inflammatory bowel disease 28; not specified; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative ColitisAssociationN=1,278Christopher J. Moran et al.(2013)· Inflammatory Bowel Diseases
This candidate gene study identified IL10RA and IL10RB polymorphisms associated with early-onset and very early-onset inflammatory bowel disease (IBD). Two IL10RA SNPs (rs2228054 and rs2228055) were significantly associated with very early-onset ulcerative colitis (VEO-UC) with odds ratios of 3.08 (p=2×10⁻⁴) and 2.93 (p=6×10⁻⁴) respectively in combined analysis of discovery and validation cohorts. The study also identified a novel homozygous splice site mutation (g.IVS5+2T>C) in IL10RA causing a premature stop codon (P206X) in an infantile-onset IBD patient.
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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