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Genome-wide scan in Portuguese Island families identifies 5q31–5q35 as a susceptibility locus for schizophrenia and psychosis


Schizophrenia is a common psychiatric disorder with a complex genetic etiology. To understand the genetic basis of this syndrome in Portuguese Island populations, we performed a genome-wide scan of 29 families with schizophrenia, which identified a single region on 5q31–5q35 with strong linkage (NPL=3.09, P=0.0012 at D5S820). Empirical simulations set a genome-wide threshold of NPL=3.10 for significant linkage. Additional support for this locus in schizophrenia comes from higher-density mapping and mapping of 11 additional families. The combined set of 40 families had a peak NPL=3.28 (P=0.00066) at markers D5S2112–D5S820. These data and previous linkage findings from other investigators provide strong and consistent evidence for this genomic region as a susceptibility locus for schizophrenia. Exploratory analyses of a novel phenotype, psychosis, in families with schizophrenia and bipolar disorder detected evidence for linkage to the same markers as found in schizophrenia (peak NPL=3.03, P=0.0012 at D5S820), suggesting that this locus may be responsible for the psychotic symptoms observed in both diseases.

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We would like to thank the families for their participation. We would like to thank John Rioux, Nick Patterson and David Pauls for helpful comments on the manuscript. This work was supported by the National Institute of Mental Health grants MH52618 and MH058693 and the Canadian Institutes for Health Research. This work was supported in its early stages by a NARSAD award to CNP.

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Correspondence to P Sklar.

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The URLs for data presented herein are as follows:

Marshfield Center for Medical Genetics,

UCSC Genome Bioinformatics, Human Genome Browser,

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Sklar, P., Pato, M., Kirby, A. et al. Genome-wide scan in Portuguese Island families identifies 5q31–5q35 as a susceptibility locus for schizophrenia and psychosis. Mol Psychiatry 9, 213–218 (2004).

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  • schizophrenia
  • bipolar disorder
  • linkage
  • genetic

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