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GSK3β polymorphisms, MAPT H1 haplotype and Parkinson's disease in a Greek cohort.

TitleGSK3β polymorphisms, MAPT H1 haplotype and Parkinson's disease in a Greek cohort.
Publication TypeJournal Article
Year of Publication2011
AuthorsKalinderi, K., Fidani L., Katsarou Z., Clarimón J., Bostantjopoulou S., & Kotsis A.
JournalNeurobiol Aging
Volume32
Issue3
Pagination546.e1-5
Date Published2011 Mar
ISSN1558-1497
KeywordsAged, Chi-Square Distribution, Cohort Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glycogen Synthase Kinase 3, Greece, Haplotypes, Humans, Male, Middle Aged, Parkinsonian Disorders, Polymorphism, Genetic, tau Proteins
Abstract

To determine whether polymorphisms in the microtubule-associated protein tau (MAPT) and/or glycogen synthase kinase-3β (GSK3β) 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) GSK3β polymorphism and PD, whereas the C/C genotype of the promoter rs334558 (-50 T/C) GSK3β polymorphism was found to exert a protective role. The C/C genotype of the rs334558 GSK3β 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 GSK3β polymorphisms was over-represented in PD patients compared to controls, and this association was independent of MAPT H1 haplotype.

DOI10.1016/j.neurobiolaging.2009.05.007
Alternate JournalNeurobiol. Aging
PubMed ID19573950

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