rs383483
This variant is located in the IL12RB1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation DatabaseReviewEsther van de Vosse et al.(2013)· Human Mutation
This is a comprehensive mutation update and database description paper for the IL12RB1 gene, which encodes the IL-12 receptor β1 chain. The authors review 70 unique pathogenic mutations found in 198 individuals worldwide causing IL-12R β1 deficiency, an autosomal recessive disorder characterized by increased susceptibility to mycobacterial and salmonella infections. The paper also reports 115 variations of unknown significance and reviews associations of IL12RB1 polymorphisms (rs11575925, rs147215816, rs11575926, rs11575934, rs375947, rs401502, rs11575935) with tuberculosis and other diseases, though most reported associations have not been replicated in larger cohorts.
▶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 studyAssociationN=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.
About IL12RB1
The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
View all IL12RB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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