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Roy N. Alcalay, M.D.
"Why do some people who carry genetic mutations associated with Parkinson’s disease (PD) never develop PD while others do?" asks Roy N. Alcalay, M.D., a postdoctoral fellow at the Center for Parkinson’s Disease and Other Movement Disorders...
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GSK3beta polymorphisms, MAPT H1 haplotype and Parkinson's disease in a Greek cohort.
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Neurobiol Aging 2009 Jun;
Authors: Kallirhoe Kalinderi, Liana Fidani, Zoe Katsarou, Jordi Clarimón, Sevasti Bostantjopoulou, Alexandros Kotsis
Department of General Biology, Medical School, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
To determine whether polymorphisms in the microtubule-associated protein tau (MAPT) and/or glycogen synthase kinase-3beta (GSK3beta) genes underpin susceptibility to Parkinson's disease (PD), we conducted a case-control association study in a Greek cohort of 196 PD cases and 163 healthy controls. In our study, the MAPT H1 haplotype was found to be significantly associated with PD, no association was detected between the intronic rs6438552 (-157 T/C) GSK3beta polymorphism and PD, whereas the C/C genotype of the promoter rs334558 (-50 T/C) GSK3beta polymorphism was found to exert a protective role. The C/C genotype of the rs334558 GSK3beta polymorphism was also found to have an additional protective role in our MAPT H1/H1 PD subgroup. Haplotype analysis revealed that, the T-T haplotype of both GSK3beta polymorphisms was over-represented in PD patients compared to controls, and this association was independent of MAPT H1 haplotype.
PMID: 19573950 [PubMed - as supplied by publisher]










