Author(s):
Sklar, P. ; Pato, Michele T. ; Kirby, A. N. ; Petryshen, T. L. ; Medeiros, Helena ; Carvalho, Célia ; Macedo, António ; Dourado, A. ; Coelho, I. ; Valente, J. ; Soares, M. J. ; Ferreira, Carlos Paz ; Lei, M. ; Verner, A. ; Hudson, T. J. ; Morley, C. P. ; Kennedy, J. L. ; Azevedo, Maria H. ; Lander, E. ; Daly, M. J. ; Pato, Carlos N.
Date: 2004
Persistent ID: http://hdl.handle.net/10400.3/4004
Origin: Repositório da Universidade dos Açores
Subject(s): Schizophrenia; Psychiatric Disorder; Genetic
Description
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.
