rs1997352

This variant is located in the RARB gene.

Research that mentions this SNP (1)

Rubella vaccine-induced cellular immunity: evidence of associations with polymorphisms in the Toll-like, vitamin A and D receptors, and innate immune response genes
AssociationN=714Inna G. Ovsyannikova et al.(2010)· Human Genetics

A candidate gene association study of 714 healthy children examined associations between 148 SNPs in innate immunity genes (TLR, vitamin A and D receptors, RIG-I pathway, TRIM factors) and rubella vaccine-induced cytokine responses. Twenty-two significant associations (P = 0.002–0.048) were found, including rs3740996 (His43Tyr) and rs10838525 (Gln136Arg) in TRIM5 with TNFα and IL-2/GM-CSF responses, and rs5743305 in TLR3 with GM-CSF secretion.

Traits studied:Rubella vaccine-induced cytokine responseRubella virus-specific GM-CSF secretionRubella virus-specific IFNγ secretionRubella virus-specific IL-10 secretionRubella virus-specific IL-12p40 secretionRubella virus-specific IL-2 secretionRubella virus-specific IL-4 secretionRubella virus-specific IL-5 secretionRubella virus-specific IL-6 secretionRubella virus-specific TNFα secretion

About RARB

This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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