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Codon 129 polymorphism of prion protein gene in sporadic Alzheimer's disease
Authors:A. Poleggi  A. Bizzarro  A. Acciarri  P. Antuono  S. Bagnoli  E. Cellini  G. Dal Forno  C. Giannattasio  A. Lauria  M. G. Matera  B. Nacmias  M. Puopolo  D. Seripa  S. Sorbi  D. R. Wekstein  M. Pocchiari   C. Masullo
Affiliation:Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome, Italy;;Institute of Neurology, Catholic University School of Medicine, Rome, Italy;;Department of Neurology, Medical College of Wisconsin, Milwaukee, WI, USA;;Department of Neurology, Florence University, Florence, Italy;;Pathology of Aging Unit, Research Department, IRCCS "Casa Sollievo della Sofferenza", San Giovanni Rotondo (FG), Italy;;and Alzheimer's Disease Center, University of Kentucky, Lexington, KY, USA
Abstract:Codon 129 polymorphism of the prion protein gene represents a major genetic risk factor for Creutzfeldt-Jakob disease (CJD). Both CJD and Alzheimer's disease (AD) are brain amyloidoses and it would be possible that codon 129 polymorphism plays a role in the susceptibility to AD. In order to investigate this polymorphism in AD the distribution of polymorphic codon 129 of the PRNP gene in 194 probable AD and 124 controls selected in Italy and 109 neuropathologically verified AD and 58 matched controls recruited in the USA was studied. No significant association was found for the PRNP polymorphism in AD compared to controls either in Probable or in Definite AD series even after stratification for APOE polymorphism. This study does not support a role of PRNP polymorphism as a susceptibility factor for AD.
Keywords:Alzheimer's disease    apolipoprotein E    disease susceptibility    genetic factors    prion diseases    PRNP gene polymorphism
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