GSK3β polymorphisms, MAPT H1 haplotype and Parkinson's disease in a Greek cohort.
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.
Kalinderi
Kallirhoe
K
Department of General Biology, Medical School, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
Fidani
Liana
L
Katsarou
Zoe
Z
Clarimón
Jordi
J
Bostantjopoulou
Sevasti
S
Kotsis
Alexandros
A
D000368:Aged; D016009:Chi-Square Distribution; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods; D005838:Genotype; D038362:Glycogen Synthase Kinase 3 / Q000235:genetics*; D000071679:Glycogen Synthase Kinase 3 beta; D006115:Greece / Q000453:epidemiology; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
C054369:MAPT protein, human; D016875:tau Proteins; C000605506:GSK3B protein, human; D000071679:Glycogen Synthase Kinase 3 beta; D038362:Glycogen Synthase Kinase 3