4.7 Article

Further evidence for association of variants in the AKT1 gene with schizophrenia in a sample of European sib-pair families

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BIOLOGICAL PSYCHIATRY
卷 58, 期 6, 页码 446-450

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ELSEVIER SCIENCE INC
DOI: 10.1016/j.biopsych.2005.05.005

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schizophrenia; AKT1; replication of association; family based analysis; haplotypes

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Background. Involvement of AKT signaling pathways in schizophrenia has been recently suggested, on the basis of several lines of evidence. In addition to impairment of protein-levels and phosphorylation levels in the pathway, association of DNA sequence variants in the AKT1 gene with schizophrenia has been detected in a family sample. Methods: We investigated the reported association of DNA sequence variants in the AKT1 gene in a sample of 79 sib-pair families with schizophrenia using the five single nucleotide polymorphisms (SNPs) of the original study and two additional SNPs in the neighborhood of the SNP for which association had been reported. Results: We obtained statistical significance for single markers (p = .002) and multilocus haplotypes (p = .0013) located in the same region as has been reported in the previous study. Conclusions: The replication of association of variants in the AKT1 gene in a family sample with similar ethnical background as in the original study adds further evidence for involvement of AKT1 in development of schizophrenic disorders.

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