E-selectin polymorphism and atherosclerosis: an association study |
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Authors: | Wenze, Katrin Felix, Stephan KIeberi, Franz X. Brachold, Raff Menke, Thomas Schattke, Sebastian Schulte, Karl L. Glaser, Christiane Rohde, Klaus Baumann, Gert Speer, Astrid |
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Affiliation: | Department of Internal Medicine I, Division of Molecular Biology 1Department of Internal Medicine I, Chanté, Humboldt-University, 10098 Berlin 2lnsttut of Human Genetics, University Halle, 06097 Halle 3Max-Delbruck-Center of Molecular Medicine 13122 Berlin, Germany |
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Abstract: | Adhesion molecules like the members of the selectin family participateIn the interaction between leukocytes and the endothellum. Theyare also involved in the pathogenesis of atherosclerotic processes.To contribute to the analysis of the genetic background of atherosclerosiswe searched for DNA polymorphisms in the genes encoding adhesionmolecules especially E-selectin which seems to be expressedonly In activated endothelium. An adenlne to cytoslne substitutionfor cDNA position 561 resulting In an amlno acid exchange fromserine to arglnlne (position 128) was detected in the epidermalgrowth factor like domain. A significantly higher mutation frequency(P = 0.02) was observed in 97 patients aged 50 years or lesswith angiographically proven severe atherosclerosis (allelefrequency of arginine 0.155) compared with an unselected population(allele frequency of arglnlne 0.088) as well as in 40 patientsaged 40 years or less (allele frequency of arginine 0.21, P=0.0025). These data suggest that the 128-serine/arginine polymorphismis associated with a higher risk for early severe atherosclerosis. |
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