Functional polymorphisms in Nrf2: implications for human disease

被引:56
作者
Cho, Hye-Youn [1 ]
Marzec, Jacqui [1 ]
Kleeberger, Steven R. [1 ]
机构
[1] NIEHS, Inflammat Immun & Dis Lab, NIH, Res Triangle Pk, NC 27709 USA
基金
美国国家卫生研究院;
关键词
Somatic; Mutations; Complex disease; Genetic; Promoter; Antioxidant response element; Mouse; Genome-wide association; NRF2-ENCODING NFE2L2 HAPLOTYPES; GENE PROMOTER POLYMORPHISM; TRANSCRIPTION FACTOR NRF2; ANNUAL DECLINE; E3; LIGASE; KEAP1; ASSOCIATION; MUTATIONS; CANCER; RISK;
D O I
10.1016/j.freeradbiomed.2015.06.012
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
Nuclear factor (erythroid derived)-2 like 2 (NFE2L2), also known as nuclear factor erythroid 2 (NF-E2)-related factor 2 (Nrf2), is a ubiquitous transcription factor essential for protecting cells and tissues from oxidative stress-induced injury. Positional cloning and studies with Nrf2 knockout mice have identified important roles for this transcription factor in disease phenotypes for many organ systems. Studies have also characterized the means through which human Nrf2 is regulated and the mechanisms of interaction with antioxidant response elements (ARE) in promoters of effector genes. Moreover, single nucleotide polymorphisms (SNPs) in Nrf2 have been identified and evaluated for effects on gene expression and function, and translational investigations have sought to determine whether loss of function SNPs associate with disease progression. In this review, we present 1) an overview of the human Nrf2 gene and protein domain, 2) identification of genetic mutations in Nrf2 and associations of the mutations with multiple diseases, and 3) the role of somatic mutations in Nrf2 in diseases, primarily various cancers.
引用
收藏
页码:362 / 372
页数:11
相关论文
共 80 条
[1]   Heart rate versus heart rate variability in risk prediction after myocardial infarction [J].
Abildstrom, SZ ;
Jensen, BT ;
Agner, E ;
Torp-Pedersen, C ;
Nyvad, O ;
Wachtell, K ;
Ottesen, MM ;
Kanters, JK .
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, 2003, 14 (02) :168-173
[2]  
Arisawa T, 2008, HEPATO-GASTROENTEROL, V55, P750
[3]  
Arisawa T, 2008, HEPATO-GASTROENTEROL, V55, P394
[4]  
Arisawa T, 2008, ONCOL REP, V19, P211
[5]  
Arisawa T, 2007, INT J MOL MED, V19, P143
[6]   Targeted Deletion of Nrf2 Reduces Urethane-Induced Lung Tumor Development in Mice [J].
Bauer, Alison K. ;
Cho, Hye-Youn ;
Miller-DeGraff, Laura ;
Walker, Christopher ;
Helms, Katherine ;
Fostel, Jennifer ;
Yamamoto, Masayuki ;
Kleeberger, Steven R. .
PLOS ONE, 2011, 6 (10)
[7]   Association of NFE2L2 and KEAP1 haplotypes with amyotrophic lateral sclerosis [J].
Bergstrom, Petra ;
von Otter, Malin ;
Nilsson, Staffan ;
Nilsson, Ann-Charloth ;
Nilsson, Michael ;
Andersen, Peter M. ;
Hammarsten, Ola ;
Zetterberg, Henrik .
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2014, 15 (1-2) :130-137
[8]   Effect of NFE2L2 Genetic Polymorphism on the Association Between Oral Estrogen Therapy and the Risk of Venous Thromboembolism in Postmenopausal Women [J].
Bouligand, J. ;
Cabaret, O. ;
Canonico, M. ;
Verstuyft, C. ;
Dubert, L. ;
Becquemont, L. ;
Guiochon-Mantel, A. ;
Scarabin, P. Y. .
CLINICAL PHARMACOLOGY & THERAPEUTICS, 2011, 89 (01) :60-64
[9]   PM10-induced Hospital Admissions for Asthma and Chronic Obstructive Pulmonary Disease The Modifying Effect of Individual Characteristics [J].
Canova, Cristina ;
Dunster, Christina ;
Kelly, Frank J. ;
Minelli, Cosetta ;
Shah, Pallav L. ;
Caneja, Cielito ;
Tumilty, Michael K. ;
Burney, Peter .
EPIDEMIOLOGY, 2012, 23 (04) :607-615
[10]  
CHAN JY, 1995, HUM GENET, V95, P265