Phenotype determination of a common Pro-Leu polymorphism in human glutathione peroxidase 1

Oxidative stress has been implicated in human illness such as cardiovascula r and neurodegenerative disease. The genetic mechanisms involved are only p oorly understood. Here we describe the determination of the allelic frequen cy and phenotype of a common polymorphism in Se-dependent glutathione perox idase 1 (GPX1) in Finnish/ Swedish populations, A proline/leucine variant o ccurs at position 197 close to the C-terminus of the protein. The more comm on allele encoding the Pro variant is present at 59% in a Finnish/Swedish p opulation (n = 66) and at 73% in a Swedish population (n = 315), The genoty pes encoding Pro/Pro, Pro/Leu, and Leu/Leu are distributed according to the Hardy-Weinberg relationship, The Swedish population consisted of 101 strok e cases and 214 controls, No significant association between allele frequen cy and risk to suffer from stroke was evident, Erythrocyte GPX activity was determined in the Finnish/Swedish population and no significant difference s were obtained between the genotypes, It can be concluded that the Pro/Leu genetic variation does not appear to compromise the defense against oxidat ive stress in red blood cells nor to be associated with stroke. (C) 2000 Ac ademic Press.