title: Cytokine and cytokine receptor gene polymorphisms and their functionality.
abstract: Cytokines, signaling proteins produced by a variety of cell types, are essential for the development and functioning of both innate and adaptive immune response. Cytokine gene expression is tightly regulated, and aberrant expression from environmental and genetic polymorphism has been implicated in a range of diseases, susceptibility to infections, and responses to treatment. This review concentrates on the functionality of cytokine and cytokine receptor gene polymorphisms; it is through these variants that genuine disease-associations are based. Several mechanisms for single nucleotide polymorphism (SNP) functionality are present within cytokine genes including: amino acid changes (IL-6R, IL-13, IL-1alpha), exon skipping (IL-7Ralpha), proximal promoter variants (IL-1beta, IL-Ra, IL-2, IL-6, IL-10, IL-12, IL-13, IL-16, TNF, IFN-gamma, TGF-beta), distal promoter variants (IL-6, IL-18) and intronic enhancer variants (IL-8).
authors.affiliation: Centre for Cardiovascular Genetics, Department of Medicine, University College London, United Kingdom. Andrew.J.P.Smith@ucl.ac.uk
authors.forename: Andrew J P
authors.initials: AJ
authors.lastname: Smith
authors.forename: Steve E
authors.initials: SE
authors.lastname: Humphries
mesh_terms: D000483:Alleles; D000818:Animals; D002874:Chromosome Mapping; D016207:Cytokines / Q000235:genetics* / Q000378:metabolism; D004742:Enhancer Elements, Genetic; D005091:Exons; D006801:Humans; D007378:Interleukins / Q000378:metabolism; D007438:Introns; D008954:Models, Biological; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D018121:Receptors, Cytokine / Q000378:metabolism; D015398:Signal Transduction
chemical_list: D016207:Cytokines; D007378:Interleukins; D018121:Receptors, Cytokine