UNIGE document Scientific Article
previous document  unige:21036  next document
add to browser collection
Title

Association of AKT1 gene variants and protein expression in both schizophrenia and bipolar disorder

Authors
Schurhoff, F.
Meary, A.
Marillier, G.
Burkhardt, S.
Ballmann, E.
Fernandez, R.
show hidden authors show all authors [1 - 12]
Published in Genes, Brain and Behavior. 2010, vol. 9, no. 5, p. 503-511
Abstract The AKT1 gene has been associated with the genetic aetiology of schizophrenia. Following the overlap model of bipolar disorder and schizophrenia, we aimed to investigate AKT1 genetic variants and protein expression in both diseases. A total of 679 subjects with European ancestry were included: 384 with schizophrenia, 130 with bipolar disorder and 165 controls. Six single nucleotide polymorphisms (SNPs) were investigated for association with the diseases using single- and multi-locus analyses. AKT1 and AKT2 protein levels were measured in post-mortem brain tissues from ante-mortem diagnosed schizophrenia (n = 30) and bipolar disorder subjects (n = 12) and matched controls. The analysis identified a significant global distortion in schizophrenia (P = 0.0026) and a weak association in bipolar disorder (P = 0.046). A sliding window procedure showed a five-SNP haplotype (TCGAG) to be associated with schizophrenia (P = 1.22 x 10(-4)) and bipolar disorder (P = 0.0041) and a four-SNP haplotype (TCGA) with the combined sample (1.73 x 10(-5)). On the basis of selected genotypes, a significant difference in protein expression emerged between subjects (P < 0.02). In conclusion, our findings, by showing the involvement of the AKT1 gene in both schizophrenia and bipolar disorder, support the role of AKT1 in the genetics of both disorders and add support to the view that there is some genetic overlap between them.
Keywords AdultBipolar Disorder/*genetics/metabolismBrain/*metabolismCase-Control StudiesFemaleGenetic Association StudiesHaplotypes/*geneticsHumansMaleMiddle AgedPolymorphism, Single NucleotideProto-Oncogene Proteins c-akt/*genetics/metabolismReference ValuesSchizophrenia/*genetics/metabolismStatistics, Nonparametric
Identifiers
PMID: 20214684
Full text
Structures
Research groups Génétique psychiatrique (4)
Neurorécepteurs et ARN (672)
Citation
(ISO format)
KAREGE, Félicien et al. Association of AKT1 gene variants and protein expression in both schizophrenia and bipolar disorder. In: Genes, Brain and Behavior, 2010, vol. 9, n° 5, p. 503-511. https://archive-ouverte.unige.ch/unige:21036

275 hits

0 download

Update

Deposited on : 2012-05-23

Export document
Format :
Citation style :