Identification of polymorphisms in the promoter region of the human NRF2 gene.
Transcription factor Nrf2 regulates the basal and inducible expression of detoxifying and antioxidant genes. Recent studies using nrf2-null mice suggest that Nrf2 dysfunction might be involved in the pathogenesis of human diseases. To gain insight into the relationship between impairment in the NRF2 gene and human diseases, we attempted to identify polymorphisms in the human NRF2 gene. We determined the structure of the NRF2 gene and found three single nucleotide polymorphisms and one triplet repeat polymorphism in its regulatory region. These results provide a molecular basis for the genetic analysis of the NRF2 gene. The frequency of each polymorphism was examined in two groups of patients with systemic lupus erythematosus and chronic obstructive pulmonary disease. This study did not reveal a close connection between the risk of these diseases and the polymorphisms. However, available lines of evidence suggest the importance of examining the link between NRF2 polymorphisms and other oxidative stress-related diseases.
Yamamoto
Tae
T
Graduate School of Comprehensive Human Sciences, Majors of Medical Sciences, University of Tsukuba, 1-1-1 Tennoudai, Tsukuba 305-8577, Japan.
Yoh
Keigyou
K
Kobayashi
Akira
A
Ishii
Yukio
Y
Kure
Shigeo
S
Koyama
Akio
A
Sakamoto
Tohru
T
Sekizawa
Kiyohisa
K
Motohashi
Hozumi
H
Yamamoto
Masayuki
M
D001483:Base Sequence; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D016350:Leucine Zippers; D008180:Lupus Erythematosus, Systemic / Q000235:genetics; D008969:Molecular Sequence Data; D051267:NF-E2-Related Factor 2; D018384:Oxidative Stress / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics*; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics
D017931:DNA Primers; D004268:DNA-Binding Proteins; D051267:NF-E2-Related Factor 2; C495635:NFE2L2 protein, human; D015534:Trans-Activators