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Cytokine and cytokine receptor gene polymorphisms and their functionality

Smith, AJP; Humphries, SE; (2009) Cytokine and cytokine receptor gene polymorphisms and their functionality. CYTOKINE GROWTH F R , 20 (1) 43 - 59. 10.1016/j.cytogfr.2008.11.006.

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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-1 alpha), exon skipping (IL-7R alpha), proximal promoter variants (IL-1 beta, 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). (C) 2008 Elsevier Ltd. All fights reserved.

Type:Article
Title:Cytokine and cytokine receptor gene polymorphisms and their functionality
DOI:10.1016/j.cytogfr.2008.11.006
Keywords:Cytokines, Single nucleotide polymorphisms, Genetic polymorphism, SINGLE NUCLEOTIDE POLYMORPHISMS, TRANSFORMING GROWTH-FACTOR-BETA-1 GENE, ALLELE-SPECIFIC QUANTIFICATION, GENOME-WIDE ASSOCIATION, FACTOR-ALPHA GENE, I IL-1RI GENE, TNF PROMOTER REGION, IFN-GAMMA GENE, INTERLEUKIN-6 RECEPTOR, MULTIPLE-SCLEROSIS
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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