Phenotype determination of a common Pro-Leu polymorphism in human glutathione peroxidase 1
Phenotype determination of a common Pro-Leu polymorphism in human glutathione peroxidase 1
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DOI：
10.1006/bcmd.2000.0325
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发表时间：
2000-10-01
影响因子：
2.3
通讯作者：
Morgenstern, R
中科院分区：
文献类型：
--
作者：
Forsberg, L;de Faire, U;Morgenstern, R
氧化应激与心血管和神经退行性疾病等人类疾病有关。所涉及的遗传机制知之甚少。在这里，我们描述了一个共同的多态性在硒依赖性谷胱甘肽过氧化物酶1（GPX1）在芬兰/瑞典人口的等位基因频率和表型的测定，一个脯氨酸/亮氨酸的变异发生在位置197接近C-末端的蛋白质。编码Pro变体的更常见的等位基因在芬兰/瑞典人群（n = 66）中以59%存在，在瑞典人群（n = 315）中以73%存在。编码Pro/Pro、Pro/Leu和Leu/Leu的基因型根据Hardy-Weinberg关系分布。瑞典人群由101例中风病例和214例对照组成，等位基因频率和中风风险之间没有明显的关联，在芬兰/瑞典人群中测定了红细胞GPX活性，在基因型之间没有获得显著差异，可以得出结论，Pro/Leu遗传变异似乎不会损害红细胞对氧化应激的防御，也不会与中风相关。(C)北京大学出版社.
Oxidative stress has been implicated in human illness such as cardiovascular and neurodegenerative disease. The genetic mechanisms involved are only poorly understood. Here we describe the determination of the allelic frequency and phenotype of a common polymorphism in Se-dependent glutathione peroxidase 1 (GPX1) in Finnish/ Swedish populations, A proline/leucine variant occurs at position 197 close to the C-terminus of the protein. The more common allele encoding the Pro variant is present at 59% in a Finnish/Swedish population (n = 66) and at 73% in a Swedish population (n = 315), The genotypes encoding Pro/Pro, Pro/Leu, and Leu/Leu are distributed according to the Hardy-Weinberg relationship, The Swedish population consisted of 101 stroke cases and 214 controls, No significant association between allele frequency and risk to suffer from stroke was evident, Erythrocyte GPX activity was determined in the Finnish/Swedish population and no significant differences were obtained between the genotypes, It can be concluded that the Pro/Leu genetic variation does not appear to compromise the defense against oxidative stress in red blood cells nor to be associated with stroke. (C) 2000 Academic Press.