Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population Isolate

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 thi...

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Autores:
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.
Tipo de recurso:
Article of investigation
Fecha de publicación:
2009
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/36486
Acceso en línea:
https://hdl.handle.net/10495/36486
Palabra clave:
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
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc-nd/2.5/co/
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network_acronym_str UDEA2
network_name_str Repositorio UdeA
repository_id_str
dc.title.spa.fl_str_mv Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population Isolate
title Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population Isolate
spellingShingle Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population Isolate
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
title_short Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population Isolate
title_full Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population Isolate
title_fullStr Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population Isolate
title_full_unstemmed Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population Isolate
title_sort Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population Isolate
dc.creator.fl_str_mv 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.
dc.contributor.author.none.fl_str_mv 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.
dc.contributor.researchgroup.spa.fl_str_mv Biología y Clínica
Epidemiología
Grupo Académico de Epidemiología Clínica
Grupo de Investigación en Psiquiatría GIPSI
Genética Molecular (GENMOL)
dc.subject.decs.none.fl_str_mv 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
topic 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
description 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..
publishDate 2009
dc.date.issued.none.fl_str_mv 2009
dc.date.accessioned.none.fl_str_mv 2023-08-31T20:32:06Z
dc.date.available.none.fl_str_mv 2023-08-31T20:32:06Z
dc.type.spa.fl_str_mv Artículo de investigación
dc.type.coar.spa.fl_str_mv http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.redcol.spa.fl_str_mv https://purl.org/redcol/resource_type/ART
dc.type.coarversion.spa.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
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dc.identifier.citation.spa.fl_str_mv 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/
dc.identifier.issn.none.fl_str_mv 0001-5652
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/10495/36486
dc.identifier.doi.none.fl_str_mv 10.1159/000181154
dc.identifier.eissn.none.fl_str_mv 1423-0062
identifier_str_mv 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/
0001-5652
10.1159/000181154
1423-0062
url https://hdl.handle.net/10495/36486
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.ispartofjournalabbrev.spa.fl_str_mv Hum. Hered.
dc.relation.citationendpage.spa.fl_str_mv 173
dc.relation.citationissue.spa.fl_str_mv 3
dc.relation.citationstartpage.spa.fl_str_mv 163
dc.relation.citationvolume.spa.fl_str_mv 67
dc.relation.ispartofjournal.spa.fl_str_mv Human Heredity
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.rights.uri.spa.fl_str_mv https://creativecommons.org/licenses/by-nc/4.0/
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dc.format.extent.spa.fl_str_mv 11
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dc.publisher.spa.fl_str_mv Karger
dc.publisher.place.spa.fl_str_mv Basilea, Suiza
institution Universidad de Antioquia
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spelling Arbeláez Montoya, María PatriciaGarcía Valencia, JennyRestrepo, Gabriel JaimeLópez Jaramillo, Carlos AlbertoPalacio Acosta, Carlos AlbertoRestrepo, MargaritaBedoya Berrío, Gabriel de JesúsOspina Duque, JorgeRuíz Linares, AndrésKremeyer, BarbaraKymäläinen, HannaWratten, NaomiMiranda, Ana LucíaBrzustowicz, Linda M.Biología y ClínicaEpidemiologíaGrupo Académico de Epidemiología ClínicaGrupo de Investigación en Psiquiatría GIPSIGenética Molecular (GENMOL)2023-08-31T20:32:06Z2023-08-31T20:32:06Z2009Kremeyer 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/PMC2868919/0001-5652https://hdl.handle.net/10495/3648610.1159/0001811541423-0062ABSTRACT: 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..COL0004362COL0029147COL0102748COL0007121COL000672311application/pdfengKargerBasilea, Suizahttp://creativecommons.org/licenses/by-nc-nd/2.5/co/https://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Evidence for a Role of the NOS1AP (CAPON) Gene in Schizophrenia and Its Clinical Dimensions: An Association Study in a South American Population IsolateArtículo de investigaciónhttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARThttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionEsquizofreniaSchizophreniaEstudios de Asociación GenéticaGenetic Association StudiesMarcadores GenéticosGenetic MarkersPredisposición Genética a la EnfermedadGenetic Predisposition to DiseaseProteínas Adaptadoras Transductoras de SeñalesAdaptor Proteins, Signal TransducingSecuencia de BasesBase SequenceEstudio de Asociación del Genoma CompletoGenome-Wide Association StudyPolimorfismo de Nucleótido SimplePolymorphism, Single NucleotideHum. 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