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Objetivos: Determinar las frecuencias alélicas y genotípicas del gen de la apolipoproteína E (APOE) en adultos de Medellín durante el año 2010. Métodos: Se tomó una muestra representativa de la población adulta de Medellín, mediante un muestreo polietápico estratificado por conglomerados. Se realizó genotipificación para APOE a cada uno de los sujetos participantes. En el análisis de frecuencias y asociación, se tuvo en cuenta el diseño muestral. Resultados: Las frecuencias de los alelos E2, E3 y E4 de APOE fueron del 3,9, el 92,0 y el 4,1% respectivamente. Las frecuencias genotípicas fueron: 2/2, el 0,2%; 2/3, el 6,8%; 2/4, el 0,6%; 3/3, el 85,0%; 3/4, el 7,2%, y 4/4, el 0,3%. Conclusiones: Las frecuencias alélicas y genotípicas de APOE en adultos de Medellín tienen una distribución similar a las reportadas en poblaciones suramericanas, y son datos que tienen valor para conocer el impacto poblacional de estas variantes genéticas en distintos trastornos psiquiátricos.
Objective: To determine the allelic and genotype frequencies of apolipoproteine E (APOE) gene in a representative sample of the adult population of Medellin in 2010. Methods: A representative sample of the adult population of Medellin, was obtained by means of a multi-stage, stratified, conglomerate based sampling method. APOE genotyping was carried out on each of the participants. The sampling design was taken into consideration for the frequencies and association analysis. Results: The frequencies of the APOE alleles E2, E3 and E4 were 3.9, 92.0 and 4.1%, respectively. The frequencies of the different APOE genotypes were as follows: 2/2, 0.2%; 2/3, 6.8%; 2/4, 0.6%; 3/3, 85.0%; 3/4, 7.2%, and 4/4, 0.3%. Conclusions: The allelic and genotype frequencies of APOE in an adult population of Medellin did not differ substantially from other series reported in South America. These data are important to determine the real impact of APOE on the population risk of several psychiatric diseases.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Apolipoproteínas E , Prevalência , Genótipo , Apolipoproteínas , Risco , Estudos de Amostragem , Área Urbana , Transtornos MentaisRESUMO
OBJECTIVE: To determine the allelic and genotype frequencies of apolipoproteine E (APOE) gene in a representative sample of the adult population of Medellin in 2010. METHODS: A representative sample of the adult population of Medellin, was obtained by means of a multi-stage, stratified, conglomerate based sampling method. APOE genotyping was carried out on each of the participants. The sampling design was taken into consideration for the frequencies and association analysis. RESULTS: The frequencies of the APOE alleles E2, E3 and E4 were 3.9, 92.0 and 4.1%, respectively. The frequencies of the different APOE genotypes were as follows: 2/2, 0.2%; 2/3, 6.8%; 2/4, 0.6%; 3/3, 85.0%; 3/4, 7.2%, and 4/4, 0.3%. CONCLUSIONS: The allelic and genotype frequencies of APOE in an adult population of Medellin did not differ substantially from other series reported in South America. These data are important to determine the real impact of APOE on the population risk of several psychiatric diseases.
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OBJECTIVE: To determine whether there are differences in verbal working memory amongst subjects with schizophrenia, their first degree relatives and controls, and to evaluate the influence of symptoms on these differences, as an initial step to assess whether this cognitive function is an endophenotype. METHODS: We examined 197 cases with schizophrenia, 197 first degree relatives and 200 controls through psychiatric interviews and the Letters and Numbers Sequencing test (LNS). Performance was compared among the three groups adjusting for age, sex and education level. Adjustment for "negative symptoms" and "disorganization" was performed afterwards. RESULTS: Subjects with schizophrenia showed lower performance in the LNS than their first degree relatives and the healthy controls; the effect sizes were 0.75 and 1.18 respectively. There was a small difference between relatives and controls (effect size =0.38). These differences were significant after adjustment for negative and disorganized symptoms, but the effect sizes became smaller: 0.26 for relatives vs. subjects with schizophrenia, 0.56 for controls vs. subjects with schizophrenia and 0.33 for relatives vs. controls. Among individuals with schizophrenia, performance in the LNS was not associated with disorder duration, disease onset age, antipsychotics, history of depressive episodes or substance use disorders. CONCLUSION: Results suggest verbal working memory may be considered as an endophenotype in schizophrenia.
Assuntos
Memória de Curto Prazo , Esquizofrenia/diagnóstico , Esquizofrenia/genética , Psicologia do Esquizofrênico , Adolescente , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esquizofrenia Hebefrênica/diagnóstico , Esquizofrenia Hebefrênica/genética , Esquizofrenia Hebefrênica/psicologia , Adulto JovemRESUMO
Objetivo: Determinar si hay diferencias en la memoria de trabajo verbal entre sujetos con esquizofrenia, familiares de primer grado y controles, y evaluar la influencia que pueden tener en estas diferencias los síntomas del trastorno, como un paso para establecer si esta función cognitiva es un endofenotipo. Métodos: A 197 sujetos con esquizofrenia, 197 familiares de primer grado y 200 controles comunitarios, se les hizo evaluación psiquiátrica y se les aplicó la prueba sucesión de letras y números (SLN). Se comparó el desempeño de los tres grupos ajustando por edad, sexo y escolaridad, y luego se ajustó también por síntomas negativos y desorganizados. Resultados: Los sujetos con esquizofrenia mostraron un menor desempeño en la SLN con respecto a sus familiares de primer grado no-afectados y los controles, con tamaños de efecto de 0,75 y 1,18 respectivamente. Hubo una diferencia pequeña pero significativa entre familiares y controles (tamaño de efecto =0,38). Estas diferencias siguieron siendo significativas después de ajustar por síntomas negativos y desorganizados, pero los tamaños de efecto disminuyeron a: 0,26 para familiares vs sujetos con esquizofrenia, 0,56para controles vs sujetos con esquizofrenia y 0,33 para familiares vs controles. Entre los sujetos con esquizofrenia, el desempeño en la SLN no se asoció significativamente con duración del trastorno, edad de inicio, uso de antipsicóticos, ni historia de episodios depresivos o trastornos por uso de sustancias. Conclusión: Los resultados sugieren que la memoria de trabajo verbal puede ser considerada un endofenotipo de la esquizofrenia (AU)
Objective: To determine whether there are differences in verbal working memory amongst subjects with schizophrenia, their first degree relatives and controls, and to evaluate the influence of symptoms on these differences, as an initial step to assess whether this cognitive function is an endophenotype. Methods: We examined 197 cases with schizophrenia, 197 first degree relatives and 200 controls through psychiatric interviews and the Letters and Numbers Sequencing test (LNS). Performance was compared among the three groups adjusting for age, sex and education level. Adjustment for negative symptoms and disorganization was performed afterwards. Results: Subjects with schizophrenia showed lower performance in the LNS than their first degree relatives and the healthy controls; the effect sizes were 0.75 and 1.18 respectively. There was a small difference between relatives and controls (effect size =0.38). These differences were significant after adjustment for negative and disorganized symptoms, but the effect sizes became smaller: 0.26 for relatives vs. subjects with schizophrenia, 0.56 for controls vs. subjects with schizophrenia and 0.33 for relatives vs. controls. Among individuals with schizophrenia, performance in the LNS was not associated with disorder duration, disease onset age, antipsychotics, history of depressive episodes or substance use disorders. Conclusion: Results suggest verbal working memory may be considered as an endophenotype in schizophrenia (AU)
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Humanos , Masculino , Feminino , Esquizofrenia/diagnóstico , Esquizofrenia/terapia , Psicologia do Esquizofrênico , Reforço Verbal , Comportamento Verbal/fisiologia , Relações Familiares , Sintomas Afetivos/psicologia , Sintomas Comportamentais/psicologia , Neuropsicologia/métodos , Neuropsicologia/normas , Neuropsicologia/tendências , Análise de Variância , Antipsicóticos/uso terapêuticoRESUMO
Introducción. El espectro autista constituye un grupo de trastornos graves del neurodesarrollo, con un fuerte componente genético. Se ha sugerido un papel importante del sistema serotoninérgico en el desarrollo de este grupo de trastornos, con base en los estudios de respuesta a medicamentos y la hiperserotoninemia, característica común en el autismo. Se han implicado múltiples moléculas en el metabolismo y la neurotransmisión de la serotonina; sin embargo, los resultados de los estudios han tenido poca congruencia entre diferentes poblaciones. Objetivos. Evaluar la relación entre el autismo y el polimorfismo de nucleótido simple (Single Nucleotide Polymorphism, SNP) en los genes SLC6A4, HTR2A e ITGB3, en una muestra de la población antioqueña. Materiales y métodos. Se genotipificaron 42 núcleos familiares con autismo para 10 variantes en los genes SLC6A4, ITGB3 y HTR2A. Se evaluó la asociación utilizando la prueba de desequilibrio en la transmisión. Se exploró el impacto de la interacción entre estos genes y el autismo, utilizando la reducción multidimensional. Resultados. Se encontró asociación de las variantes rs4583306 (OR=2,6, p=0,004) y rs2066713 (OR=2,2 p=0,03), en el gen SLC6A4, y asociación de combinaciones genotípicas entre los genes SLC6A4 y HTR2A y el riesgo de autismo (p=0,0001). Conclusiones. Se encontró asociación significativa con variantes en el gen transportador de serotonina con el autismo, al igual que interacción entre variantes en los genes HTR2A con SLC6A4. Estos resultados concuerdan con los de estudios previos en otras poblaciones y son pruebas a favor del papel del sistema serotoninérgico en la etiología del espectro autista.
Introduction. Autism spectrum disorders are severe neurodevelopmental disorders with a strong genetic component. The potential role of the serotoninergic system in the development of autistic disorder has been based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Multiple molecules involved in serotonin metabolism and neurotransmission have been studied; however, replication studies have been inconsistent. This may be partially related to the marked genetic heterogeneity of autism in different populations. Objectives. The relationship between autism and single nucleotide polymorphisms of SLC6A4, HTR2A and ITGB3 genes was evaluated in an urban population of northwestern Colombia. Materials and methods. In Antioquia, Colombia, 42 families with history of autism were screened for 10 SNPs in SLC6A4, HTR2A and ITGB3 genes and evaluated for associations with the transmission disequilibrium test. The interactions among these genes and autism was assessed with multidimensional reduction methods. Results. A significant main effect was seen among the SLC6A4 gene variants rs4583306 (OR=2.6, p=0.004) and rs2066713 (OR=2.2, p=0.03). No main effect of the ITGB3 or HTR2A variants was found, however, in the interaction effects, the SLC6A4 and HTR2A genes demonstrated significant evidence of association with autism (p<0.001). Conclusion. Significant association of markers were discovered within the SLC6A4 gene and the combination of SLC6A4 and HTR2A (S-A) genes to autism. These results were consistent with previous studies conducted in other populations and provide further evidence for the implication of the serotoninergic system in the etiology of autistic disorders.
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Criança , Pré-Escolar , Feminino , Humanos , Masculino , Transtornos Globais do Desenvolvimento Infantil/genética , Epistasia Genética , /genética , Polimorfismo de Nucleotídeo Único , /genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Colômbia/epidemiologia , Frequência do Gene , Estudos de Associação Genética , Genótipo , Desequilíbrio de Ligação , Avaliação de Sintomas , Serotonina/fisiologiaRESUMO
INTRODUCTION: Autism spectrum disorders are severe neurodevelopmental disorders with a strong genetic component. The potential role of the serotoninergic system in the development of autistic disorder has been based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Multiple molecules involved in serotonin metabolism and neurotransmission have been studied; however, replication studies have been inconsistent. This may be partially related to the marked genetic heterogeneity of autism in different populations. OBJECTIVES: The relationship between autism and single nucleotide polymorphisms of SLC6A4, HTR2A and ITGB3 genes was evaluated in an urban population of northwestern Colombia. MATERIALS AND METHODS: In Antioquia, Colombia, 42 families with history of autism were screened for 10 SNPs in SLC6A4, HTR2A and ITGB3 genes and evaluated for associations with the transmission disequilibrium test. The interactions among these genes and autism was assessed with multidimensional reduction methods. RESULTS: A significant main effect was seen among the SLC6A4 gene variants rs4583306 (OR=2.6, p=0.004) and rs2066713 (OR=2.2, p=0.03). No main effect of the ITGB3 or HTR2A variants was found, however, in the interaction effects, the SLC6A4 and HTR2A genes demonstrated significant evidence of association with autism (p<0.001). CONCLUSION: Significant association of markers were discovered within the SLC6A4 gene and the combination of SLC6A4 and HTR2A (S-A) genes to autism. These results were consistent with previous studies conducted in other populations and provide further evidence for the implication of the serotoninergic system in the etiology of autistic disorders.
