title: Genetic studies of the protein kinase AKT1 in Parkinson's disease.
abstract: The protein kinase AKT1 belongs to the Akt family and is a potent mediator of cell growth and survival and fully activated when phosphorylated. The AKT family has been found to be phosphorylated to a lesser extent in the dopaminergic cells of Parkinson's disease patients compared to control individuals, which might influence cell survival. Several publications support the implication of AKT1 in disorders of the dopaminergic system including bipolar disease and schizophrenia. In 2008 an association study performed in a Greek Parkinson's disease case-control material reported the identification of a protective AKT1 haplotype. Based on their work we have performed a replication study in a Swedish Parkinson's disease cohort. We genotyped the four single nucleotide polymorphims (SNPs): rs2494743, rs2498788, rs2494746 and rs1130214 in a case-control material consisting of 243 Parkinson patients and 315 controls. We did not find any associations with Parkinson's disease for either the individual SNPs or any of the haplotypes. In contrast to previously published results, our data do not support the hypothesis of genetic variants in AKT1 confering protection against Parkinson's disease.
authors: Department of Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.
authors: Caroline
authors: C
authors: Ran
authors: Marie
authors: M
authors: Westerlund
authors: Anna
authors: A
authors: Anvret
authors: Thomas
authors: T
authors: Willows
authors: Olof
authors: O
authors: Sydow
authors: Dagmar
authors: D
authors: Galter
authors: Andrea Carmine
authors: AC
authors: Belin
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics*
chemical_list: D051057:Proto-Oncogene Proteins c-akt