Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit.
A novel phenotyping strategy in schizophrenia, targeting different neurocognitive domains, neurobehavioral features, and selected personality traits, has allowed us to identify a homogeneous familial subtype of the disease, characterized by pervasive neurocognitive deficit. Our genome scan data indicate that this subtype, which accounts for up to 50% of our sample, has a distinct genetic basis and explains linkage to chromosome 6p24 reported previously. If representative of other populations, the ratio of schizophrenia subtypes observed in our families could have a profound impact on sample heterogeneity and on the power of genetic studies to detect linkage and association. Our proposed abbreviated battery of tests should facilitate phenotype characterization for future genetic analyses and allow a focus on a crisply defined schizophrenia subtype, thus promoting a more informed search for susceptibility genes.
Hallmayer
Joachim F
JF
Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA, USA.
Kalaydjieva
Luba
L
Badcock
Johanna
J
Dragovic
Milan
M
Howell
Sarah
S
Michie
Patricia T
PT
Rock
Daniel
D
Vile
David
D
Williams
Rachael
R
Corder
Elizabeth H
EH
Hollingsworth
Kate
K
Jablensky
Assen
A
D001288:Attention / Q000502:physiology; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics* / Q000503:physiopathology; D005190:Family; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D023281:Genomics / Q000379:methods; D006801:Humans; D008126:Lod Score; D008568:Memory / Q000502:physiology; D010552:Personality Assessment; D010641:Phenotype; D012559:Schizophrenia / Q000235:genetics* / Q000503:physiopathology
D005819:Genetic Markers