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Título : Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population Isolate
Autor : Arbeláez Montoya, María Patricia
García Valencia, Jenny
Restrepo, Gabriel Jaime
López Jaramillo, Carlos Alberto
Palacio Acosta, Carlos Alberto
Restrepo, Margarita
Bedoya Berrío, Gabriel de Jesús
Ospina Duque, Jorge
Ruíz Linares, Andrés
Kremeyer, Barbara
Kymäläinen, Hanna
Wratten, Naomi
Miranda, Ana Lucía
Brzustowicz, Linda M.
metadata.dc.subject.*: Esquizofrenia
Schizophrenia
Estudios de Asociación Genética
Genetic Association Studies
Marcadores Genéticos
Genetic Markers
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
Proteínas Adaptadoras Transductoras de Señales
Adaptor Proteins, Signal Transducing
Secuencia de Bases
Base Sequence
Estudio de Asociación del Genoma Completo
Genome-Wide Association Study
Polimorfismo de Nucleótido Simple
Polymorphism, Single Nucleotide
Fecha de publicación : 2009
Editorial : Karger
Citación : Kremeyer B, García Valencia J, Kymäläinen H, Wratten N, Restrepo GJ, Palacio Acosta CA, et al. Evidence for a role of the NOS1AP (CAPON) gene in schizophrenia and its clinical dimensions: an association study in a South American population isolate. Human heredity, [Internet]. 2009 [citado día mes año];67(3):163-173. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2868919/
Resumen : ABSTRACT: Recent studies have implicated a region on chromosome 1q21-23, including the NOS1AP gene, in susceptibility to schizophrenia. However, replication studies have been inconsistent, a fact that could partly relate to the marked psychopathological heterogeneity of schizophrenia. The aim of this study is to evaluate association of polymorphisms in the NOS1AP gene region to schizophrenia, in patients from a South American population isolate, and to assess if these variants are associated with specific clinical dimensions of the disorder. Methods: We genotyped 24 densely spaced SNPs in the NOS1AP gene region in a schizophrenia trio sample. The transmission disequilibrium test (TDT) was applied to single marker and haplotype data. Association to clinical dimensions (identified by factor analysis) was evaluated using a quantitative transmission disequilibrium test (QTDT). Results: We found significant association between eight SNPs in the NOS1AP gene region to schizophrenia (minimum p value = 0.004). The QTDT analysis of clinical dimensions revealed an association to a dimension consisting mainly of negative symptoms (minimum p value 0.001). Conclusions: Our findings are consistent with a role for NOS1AP in susceptibility to schizophrenia, especially for the ‘negative syndrome’ of the disorder..
metadata.dc.identifier.eissn: 1423-0062
ISSN : 0001-5652
metadata.dc.identifier.doi: 10.1159/000181154
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