【摘 要】
：
背景 大量研究证实人体内氧化应激与高血压发生密切相关.氧化应激由体内活性氧簇ROS的产生与抗氧化剂的清除作用不平衡导致,其中超氧化物歧化酶SOD可将O2-催化成为H2O2而降低细胞的氧化应激损伤,特别是在血管中,SOD通过维持O2-与NO-平衡而在心脑血管疾病发病机制中发挥重要作用.哺乳动物EC-SOD(Extracellular superoxide dismutase,胞外SOD)由SOD3基
【机 构】
：
110001 沈阳,中国医科大学医学基础医学院医学遗传学教研室
【出 处】
：
第八次全国医学遗传学学术会议(中华医学会2009年医学遗传学年会)
论文部分内容阅读
背景 大量研究证实人体内氧化应激与高血压发生密切相关.氧化应激由体内活性氧簇ROS的产生与抗氧化剂的清除作用不平衡导致,其中超氧化物歧化酶SOD可将O2-催化成为H2O2而降低细胞的氧化应激损伤,特别是在血管中,SOD通过维持O2-与NO-平衡而在心脑血管疾病发病机制中发挥重要作用.哺乳动物EC-SOD(Extracellular superoxide dismutase,胞外SOD)由SOD3基因编码,表达于细胞外.在血管细胞中,EC-SOD表达最高,是最主要的SOD,与高血压发生关系最密切.目的 为分析SOD3与高血压及相关危险因素的关联性.方法 本研究以该基因的一个cSNP,rs2536512(Ala58Thr,G377A)为标签SNP(tagSNP),利用Real-Time PCR方法 对411例病例-对照人群进行基因型检测,并进行统计学分析.结果 统计结果 显示,该位点基因型分布符合Hardy-Weinberg平衡.在高血压-对照人群中,没有发现基因型间存在统计学差异.但是,我们发现,对于等位基因G,人群中存在血压值变化趋势(GG 139.92±30.47 mmHg,GA 137.16 ±28.29 mmHg,AA131.78±23.24 mmHg),并且在总人群中,GG纯合子个体血清钠水平高出其他基因型人群(P=0.019).结论 在病例对照人群中,基因与基因型频率不存在明显差异.扩大规模的关联研究和功能研究有利于明确SOD3基因在高血压特别是盐敏感性高血压发生中的作用及分子机制.
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