title: Saitohin polymorphism and executive dysfunction in schizophrenia.
abstract: Saitohin (STH) is an intronless gene nested within the human tau gene, which contains a single nucleotide polymorphism (A/G), suggested to be involved in the physiopathology and clinical course of several neurodegenerative and neuropsychiatric diseases. Recently, an association between this polymorphism and frontal hypoperfusion and clinical prognosis in frontotemporal dementia was reported. The present study sought to evaluate the possible role of the STH polymorphism as a concurring factor of cognitive decline in schizophrenia, a disease sharing both early psychotic manifestations, a core deficit of executive functions and hypofrontality with frontotemporal lobe dementia. 220 clinically stabilized patients with schizophrenia were assessed with the Wisconsin Card Sorting Test (WCST) for evaluation of executive functions and compared for STH allele frequency with 48 patients affected by frontotemporal dementia and 47 healthy subjects. There was no significant difference in allelic distribution between the healthy controls and all other groups, while we observed a significantly greater frequency of G allele among both patients with frontotemporal dementia (p = 0.037) and schizophrenia patients with poor performances of WCST (p = 0.044), compared to schizophrenia patients with best WCST performances. Among the patients with schizophrenia, stratified for age and gender, the STH polymorphism resulted in a significant predictor of WCST performance (p = 0.007). These results suggest a possible contribution of STH gene products on the heterogeneity of core frontal executive functions deterioration, probably through complex interactions with mechanism involved in neurodevelopment and neurodegeneration.
authors.affiliation: Department of Clinical Neurosciences, San Raffaele Scientific Institute, Milan, Italy. bosia.marta@hsr.it
authors.forename: Marta
authors.initials: M
authors.lastname: Bosia
authors.forename: Mariachiara
authors.initials: M
authors.lastname: Buonocore
authors.forename: Carmelo
authors.initials: C
authors.lastname: Guglielmino
authors.forename: Adele
authors.initials: A
authors.lastname: Pirovano
authors.forename: Cristina
authors.initials: C
authors.lastname: Lorenzi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Marcone
authors.forename: Placido
authors.initials: P
authors.lastname: Bramanti
authors.forename: Stefano F
authors.initials: SF
authors.lastname: Cappa
authors.forename: Eugenio
authors.initials: E
authors.lastname: Aguglia
authors.forename: Enrico
authors.initials: E
authors.lastname: Smeraldi
authors.forename: Roberto
authors.initials: R
authors.lastname: Cavallaro
mesh_terms: D000368:Aged; D003072:Cognition Disorders / Q000209:etiology* / Q000235:genetics*; D056344:Executive Function / Q000502:physiology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D009483:Neuropsychological Tests; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000150:complications / Q000235:genetics*; D012565:Schizophrenic Psychology; D016875:tau Proteins / Q000235:genetics*
chemical_list: C458340:STH protein, human; D016875:tau Proteins