Asociación de esquizofrenia y sus dimensiones clínicas con el gen NOS1AP en población colombiana*

ISSN: 0034-7450

Revista Colombiana de Psiquiatría (RCP) is a quarterly official publication of Colombian Psychiatry Association (March, June, September and December) and its purpose is to spread different the knowledge models that currently constitute the theoretical and practical body of our specialty. Psychiatrists, psychiatric residents, non psychiatric physicians, psychologists, philosophers or other health professionals or persons interested in this area can take part in the magazine. This magazine publishes original works, revision or updating articles, case reports of all psychiatry and mental health areas, epistemology, mind philosophy, bioethics and also articles about methodology of investigation and critical reading. Manuscripts could be written in either Spanish or English.

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Es un estudio de casos y controles, con 255 sujetos por grupo. Se tipificaron marcadores dentro del gen NOS1AP y otros informativos de origen genético, con el fin de ajuster por estratificación de la población. Se hizo un análisis factorial de componentes principales de cada uno de los ítems de las escalas de evaluación de síntomas negativos (SANS) y de síntomas positivos (SAPS) para determinar las dimensiones clínicas. Posteriormente, se evaluó la asociación de las variantes genéticas con la esquizofrenia y con cada una de las dimensiones.

Resultados

Se encontró asociación entre el genotipo C/C del marcador rs945713 con esquizofrenia (OR = 1,79, IC95%: 1,13-2,84). El genotipo C/C de rs945713 se asoció con puntuaciones más altas en la dimensión “aplanamiento afectivo y alogia” y el genotipo A/A del marcador rs4657181 se relacionó con puntuaciones más bajas en esa misma dimensión.

Conclusiones

Se encontró asociación significativa de marcadores dentro de NOS1AP con esquizofrenia y la dimensión clínica “aplanamiento afectivo y alogia”. Estos resultados son consistentes con estudios previos y apoyan la posibilidad de que NOS1AP influya en la susceptibilidad a esquizofrenia y que sea un modificador de sus características clínicas.

Palabras clave:

Esquizofrenia

NOS1AP

genética

Abstract

Introduction

The nitric oxide synthase 1 adaptor protein (NOS1AP) gene is possibly implicated in schizophrenia etiopathogenesis.

Objective

To determine the association of NOS1AP gene variants with schizophrenia and the relationship of variants with the clinical dimensions of the disorder in the Colombian population.

Methodology

It is a case-control study with 255 subjects per group. Markers within the NOS1AP gene were typified as well as other informative material of genetic origin so as to adjust by population stratification. A factorial analysis of the main components for each item in the Scales for Evaluating Negative Symptoms (SENS) together with the Scales for Evaluating Positive Symptoms (SEPS) to determine clinical dimensions.

Results

Association between the C/C genotype of the rs945713 marker with schizophrenia (OR = 1.79, 95% CI: 1.13 – 2.84) was found. The C/C genotype of the rs945713 was related to higher scores in the “affective flattening and alogia” dimension; and the A/A genotype of the rs4657181 marker was associated to lower scores in the same dimension.

Conclusions

Significant associations of markers inside the NOS1AP gene with schizophrenia and the “affective flattening and alogia” clinical dimension were found. These results are consistent with previous studies and support the possibility that NOS1AP influences schizophrenia susceptibility. Furthermore, NOS1AP might be a modifier of schizophrenia clinical characteristics.

Key words:

Schizophrenia

NOS1AP

genetics

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Este trabajo fue financiado por Colciencias (código 111545921538) y por el CODI-Universidad de Antioquia (código: CIM-E01242). Este artículo se basa en la tesis académica para obtener el título de Doctorado en Epidemiología, 2010, Universidad de Antioquia.

Conflictos de interés: Los autores manifiestan que no tienen conflictos de interés en este artículo.

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