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Relationships between single nucleotide polymorphisms of antioxidant enzymes and disease

Citation

Crawford, Amanda and Fassett, RG and Geraghty, DP and Kunde, DA and Ball, MJ and Robertson, IK and Coombes, JS, Relationships between single nucleotide polymorphisms of antioxidant enzymes and disease, Gene, 501, (2) pp. 89-103. ISSN 0378-1119 (2012) [Refereed Article]

Copyright Statement

Copyright 2012 Elsevier B.V.

DOI: doi:10.1016/j.gene.2012.04.011

Abstract

The presence and progression of numerous diseases have been linked to deficiencies in antioxidant systems. The relationships between single nucleotide polymorphisms (SNPs) arising from specific antioxidant enzymes and diseases associated with elevated oxidative stress have been studied with the rationale that they may be useful in screening for diseases. The purpose of this narrative review is to analyse evidence from these studies. The antioxidant enzyme SNPs selected for analysis are based on those most frequently investigated in relation to diseases in humans: superoxide dismutase (. SOD2) Ala16Val (80 studies), glutathione peroxidise (. GPx1) Pro197Leu (24 studies) and . catalase C-262T (22 studies). Although the majority of evidence supports associations between the . SOD2 Ala16Val SNP and diseases such as breast, prostate and lung cancers, diabetes and cardiovascular disease, the presence of the . SOD2 Ala16Val SNP confers only a small, clinically insignificant reduction (if any) in the risk of these diseases. Other diseases such as bladder cancer, liver disease, nervous system pathologies and asthma have not been consistently related to this SOD SNP genotype. The . GPx1 Pro197Leu and . catalase C-262T SNP genotypes have been associated with breast cancer, but only in a small number of studies. Thus, currently available evidence suggests antioxidant enzyme SNP genotypes are not useful for screening for diseases in humans. © 2012 Elsevier B.V.

Item Details

Item Type:Refereed Article
Keywords:Single nucleotide polymorphism; Superoxide dismutase; Glutathione peroxidase; Catalase
Research Division:Medical and Health Sciences
Research Group:Clinical Sciences
Research Field:Nephrology and Urology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Urogenital System and Disorders
Author:Crawford, Amanda (Miss Amanda Crawford)
Author:Geraghty, DP (Professor Dominic Geraghty)
Author:Kunde, DA (Dr Dale Kunde)
Author:Ball, MJ (Professor Madeleine Ball)
Author:Robertson, IK (Dr Iain Robertson)
ID Code:79546
Year Published:2012
Web of Science® Times Cited:86
Deposited By:Health Sciences A
Deposited On:2012-09-19
Last Modified:2017-11-02
Downloads:0

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