No genetic association between alpha-2 macroglobulin I1000V polymorphism and Japanese sporadic Alzheimer's disease

Alpha-2 macroglobulin (A2M) is a serum pan-protease inhibitor that is relat ed with the pathogenesis of Alzheimer's disease (AD) through its ability to mediate amyloid beta degradation. Recently, it has been reported that the 11000V polymorphism in A2M gene might increase the risk of AD. In the prese nt study, we investigated this mutation in 95 healthy controls and in ill s poradic AD cases by polymerase chain reaction-restriction fragment length p olymorphism method in order to study this hypothesis in the Japanese AD pop ulation. Allelic frequencies with the 11000V polymorphism in the gene were 7.4 and 6.8% in the control and AD groups, respectively. Our results failed to demonstrate an association between this polymorphism and Japanese spora dic AD, and the A2M 11000V mutation does not seem to be a risk factor per s e for sporadic AD. (C) 2000 Elsevier Science Ireland Ltd. All rights reserv ed.