Cytokine and cytokine receptor gene polymorphisms and their functionality

被引：299

作者：

Smith, Andrew J. P. ^{[1
]}

Humphries, Steve E. ^{[1
]}

机构：

[1] UCL, Dept Med, Ctr Cardiovasc Genet, London WC1E 6JF, England

来源：

CYTOKINE & GROWTH FACTOR REVIEWS | 2009年 / 20卷 / 01期

关键词：

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;

D O I：

10.1016/j.cytogfr.2008.11.006

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：43 / 59

页数：17

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