title: Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis.
abstract: 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. Molecular Psychiatry (2004) 9, 213-218. doi:10.1038/sj.mp.4001418 Published online 30 December 2003
authors.affiliation: Department of Psychiatry, Harvard Medical School, and Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA. sklar@psych.mgh.harvard.edu
authors.forename: P
authors.initials: P
authors.lastname: Sklar
authors.forename: M T
authors.initials: MT
authors.lastname: Pato
authors.forename: A
authors.initials: A
authors.lastname: Kirby
authors.forename: T L
authors.initials: TL
authors.lastname: Petryshen
authors.forename: H
authors.initials: H
authors.lastname: Medeiros
authors.forename: C
authors.initials: C
authors.lastname: Carvalho
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authors.initials: A
authors.lastname: Macedo
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authors.initials: A
authors.lastname: Dourado
authors.forename: I
authors.initials: I
authors.lastname: Coelho
authors.forename: J
authors.initials: J
authors.lastname: Valente
authors.forename: M J
authors.initials: MJ
authors.lastname: Soares
authors.forename: C P
authors.initials: CP
authors.lastname: Ferreira
authors.forename: M
authors.initials: M
authors.lastname: Lei
authors.forename: A
authors.initials: A
authors.lastname: Verner
authors.forename: T J
authors.initials: TJ
authors.lastname: Hudson
authors.forename: C P
authors.initials: CP
authors.lastname: Morley
authors.forename: J L
authors.initials: JL
authors.lastname: Kennedy
authors.forename: M H
authors.initials: MH
authors.lastname: Azevedo
authors.forename: E
authors.initials: E
authors.lastname: Lander
authors.forename: M J
authors.initials: MJ
authors.lastname: Daly
authors.forename: C N
authors.initials: CN
authors.lastname: Pato
mesh_terms: D001394:Azores; D001714:Bipolar Disorder / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D023281:Genomics; D006801:Humans; D012559:Schizophrenia / Q000235:genetics*