Association between AKT1 gene and Parkinson's disease: A protective haplotype
Συγγραφέας
Xiromerisiou, G.; Hadjigeorgiou, G. M.; Papadimitriou, A.; Katsarogiannis, E.; Gourbali, V.; Singleton, A. B.Ημερομηνία
2008Λέξη-κλειδί
Επιτομή
Variation in AKT1 has been associated with schizophrenia, bipolar disease and type 11 diabetes. The aim of the present study was to investigate the potential role of variability within AKT1 as a risk factor for Parkinson's disease (PD). We performed a case-control association analysis of AKT1 in a Greek cohort of PD using four tagging SNPs and five constructed haplotypes. To assess the structure of this locus in different populations we have performed linkage disequilibrium (LD) analysis using these variants [dunning]. In multilocus analysis, the frequency of a four-SNP1 /2/3/4 haplotype was significantly higher in controls in comparison with PD patients (chi(2) = 19.76, p = 0.00009, OR = 0.11 C.I. = 0.03-0.35). The association remained significant even after Bonferroni correction for the number of haplotypes (p = 0.0002). So, this certain haplotype was significantly associated with reduced risk of the disease. The data presented here suggest the involvement of AKT1 in protection of PD through many possible mechanisms involving different signaling pathways that could be potential therapeutic targets in the future. (c) 2008 Elsevier Ireland Ltd. All rights reserved.