caa a22 4500 467881820 CHVBK 20180406152722.0 cr unu---uuuuu 170328e20061101xx s 000 0 eng 10.1007/s00702-006-0540-4 doi (NATIONALLICENCE)springer-10.1007/s00702-006-0540-4 Prion protein gene M129 allele is a risk factor for Alzheimer's disease [Elektronische Daten] [M. Gacia, K. Safranow, M. Styczyńska, K. Jakubowska, B. Pepłońska, M. Chodakowska-Żebrowska, I. Przekop, A. Słowik, E. Golańska, K. Hułas-Bigoszewska, D. Chlubek, D. Religa, C. Żekanowski, M. Barcikowska] Summary.: Prion protein gene polymorphism M129V represents a known risk factor for Creutzfeldt-Jakob disease. Recently, the meta-analysis revealed that homozygosity at codon 129 is connected with increased risk of Alzheimer's disease (AD). To determine whether M129V polymorphism is a risk factor for AD we analyzed a group of early-onset, and late-onset Polish AD patients. We observed that in LOAD patients there is a statistically significant increase of MM (p = 0.0028) and decrease of MV (p = 0.0006) genotype frequency, as compared to controls. When both groups were stratified according to APOE4 status, increase of MM and decrease of MV genotype frequency were significant in the LOAD subgroup with no APOE4 (p = 0.017, and p = 0.018, respectively). In the subgroup with APOE4 allele, only MV genotype frequency was significantly lower, as com pared to controls (p = 0.035). However, no interaction was found between APOE4 status and M129V polymorphism. We conclude that MM genotype increases LOAD risk in Polish population independently from the APOE4 status. Springer-Verlag, 2006 Keywords: Prion protein gene, Alzheimer's disease, PRNP polymorphisms, M129V, promoter, APOE, risk factor nationallicence Gacia M. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut Safranow K. Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland aut Styczyńska M. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut Jakubowska K. Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland aut Pepłońska B. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut Chodakowska-Żebrowska M. Department of Neurology, MSWiA Hospital, Warszawa, Poland aut Przekop I. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut Słowik A. Department of Neurology, Jagiellonian University, Krakow, Poland aut Golańska E. Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland aut Hułas-Bigoszewska K. Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland aut Chlubek D. Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland aut Religa D. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut Żekanowski C. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut Barcikowska M. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut Journal of Neural Transmission Springer-Verlag 113/11(2006-11-01), 1747-1751 0300-9564 113:11<1747 2006 113 702 https://doi.org/10.1007/s00702-006-0540-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00702-006-0540-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gacia M. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut NATIONALLICENCE 700 1- Safranow K. Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland aut NATIONALLICENCE 700 1- Styczyńska M. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut NATIONALLICENCE 700 1- Jakubowska K. Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland aut NATIONALLICENCE 700 1- Pepłońska B. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut NATIONALLICENCE 700 1- Chodakowska-Żebrowska M. Department of Neurology, MSWiA Hospital, Warszawa, Poland aut NATIONALLICENCE 700 1- Przekop I. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut NATIONALLICENCE 700 1- Słowik A. Department of Neurology, Jagiellonian University, Krakow, Poland aut NATIONALLICENCE 700 1- Golańska E. Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland aut NATIONALLICENCE 700 1- Hułas-Bigoszewska K. Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland aut NATIONALLICENCE 700 1- Chlubek D. Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland aut NATIONALLICENCE 700 1- Religa D. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut NATIONALLICENCE 700 1- Żekanowski C. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut NATIONALLICENCE 700 1- Barcikowska M. Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland aut NATIONALLICENCE 773 0- Journal of Neural Transmission Springer-Verlag 113/11(2006-11-01), 1747-1751 0300-9564 113:11<1747 2006 113 702 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer