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超氧化物歧化酶2基因(G1677T)一种新的内含子多态性与癌症的关联。

Association of a new intronic polymorphism of the SOD2 gene (G1677T) with cancer.

作者信息

Hernandez-Saavedra Daniel, McCord Joe M

机构信息

Pulmonary Sciences and Critical Care Medicine, University of Colorado Denver, Aurora, CO, USA.

出版信息

Cell Biochem Funct. 2009 Jun;27(4):223-7. doi: 10.1002/cbf.1560.

DOI:10.1002/cbf.1560
PMID:19405048
Abstract

There is growing evidence of the correlation between cancer and reactive oxygen species (ROS), especially superoxide. Low expression levels of the Mn-superoxide dismutase (SOD2) enzyme have been reported in cancer patients. Genetic variation in the regulatory regions of the SOD2 gene may increase the risk of cancer. We identified a genetic variation (G1677T, rs2Y758Y339) in the vicinity of the enhancer region located in intron 2 of the SOD2 gene that creates a potential glucocorticoid responsive element, and developed an assay to screen DNA samples of 220 individuals (73 control, 59 prostate cancer survival individuals and 88 lung cancer biopsies). There were no significant differences in the genotype frequency distribution among prostate, lung cancer and control (p = 0.074 and 0.057, respectively). However, we identified an association of T allele with a decreased risk of lung cancer (OR = 0.525, p = 0.037). The use of the G1677T polymorphism of SOD2 gene as a genetic risk marker may suggest new approaches for detection, prevention, treatment, and prognosis of cancer.

摘要

越来越多的证据表明癌症与活性氧(ROS),尤其是超氧化物之间存在关联。据报道,癌症患者体内锰超氧化物歧化酶(SOD2)的表达水平较低。SOD2基因调控区域的基因变异可能会增加患癌风险。我们在SOD2基因第2内含子的增强子区域附近发现了一个基因变异(G1677T,rs2Y758Y339),该变异产生了一个潜在的糖皮质激素反应元件,并开发了一种检测方法来筛查220名个体(73名对照、59名前列腺癌存活个体和88名肺癌活检样本)的DNA样本。前列腺癌、肺癌和对照组之间的基因型频率分布没有显著差异(p值分别为0.074和0.057)。然而,我们发现T等位基因与肺癌风险降低有关(OR = 0.525,p = 0.037)。将SOD2基因的G1677T多态性用作遗传风险标志物可能为癌症的检测、预防、治疗和预后提供新方法。

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