Identification of polymorphisms in the promoter region of the human NRF2 gene
Identification of polymorphisms in the promoter region of the human NRF2 gene
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DOI：
10.1016/j.bbrc.2004.06.112
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发表时间：
2004-08-11
影响因子：
3.1
通讯作者：
Yamamoto, M
中科院分区：
文献类型：
--
作者：
Yamamoto, T;Yoh, K;Yamamoto, M
转录因子Nrf2调节解毒和抗氧化基因的基础和诱导表达，最近使用nrf2缺失小鼠的研究表明Nrf2功能障碍可能与人类疾病的发病机制有关。为了深入了解 NRF2 基因损伤与人类疾病之间的关系，我们尝试鉴定人类 NRF2 基因的多态性。我们确定了NRF2基因的结构，并在其调控区发现了3个单核苷酸多态性和1个三联体重复多态性。这些结果为NRF2基因的遗传分析提供了分子基础。在两组患有系统性红斑狼疮和慢性阻塞性肺病的患者中检查了每种多态性的频率。这项研究并未揭示这些疾病的风险与多态性之间的密切联系。然而，现有证据表明检查 NRF2 多态性与其他氧化应激相关疾病之间联系的重要性。 (C) 2004 Elsevier Inc. 保留所有权利。
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 deter-mined 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. (C) 2004 Elsevier Inc. All rights reserved.