RESUMO
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.
RESUMO
INTRODUCTION: Hypertension is a multifactorial disease influenced by genetic and environmental components, with its prevalence varying across ethnic groups. Manifold studies on blood pressure regulatory system genes have been carried out -such as the renin-angiotensin-aldosterone system, the sympathetic nervous system, endothelial factor, and sodium balance-, but the results yielded were inconsistent among populations. OBJECTIVES: To evaluate the effect of both variants in genes AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R PTGS2, and the result of the individual ancestry component on hypertension and blood pressure levels among population in Antioquia. METHODS AND MATERIALS: 107 cases and 253 controls were genotyped for 12 variants on genes AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R y PTGS2, and for 20 ancestry informative markers. The association of polymorphisms and their interactions, and the association of ancestral genetic composition with hypertension and blood pressure levels were examined. RESULTS: Genes ADD2, rs4852706 (OR=3.0; p=0.023); DRD1, rs686 (OR=0.38; p=0.012) and ADRB2, rs1042718 (OR=10.0; p=0.008); as well as genotypic combinations of DRD1 and AGTR1; AGT and ADD1; and ADD1 to ATP2B1 and PTGS2 were associated to hypertension. The Amerindian ancestry component was associated to some decrease in diastolic blood pressure. CONCLUSION: Variants on genes ADD2, DRD1, ADRB2, AGTR1, AGT, ADD1, ATP2B1 and PTGS2 individually or interacting, are associated to hypertension. The Amerindian ancestry component has an effect on blood pressure.
Assuntos
Hipertensão/genética , Adulto , Angiotensinogênio/genética , Pressão Sanguínea/genética , Proteínas de Ligação a Calmodulina/genética , Colômbia , Ciclo-Oxigenase 2/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Peptidil Dipeptidase A/genética , ATPases Transportadoras de Cálcio da Membrana Plasmática/genética , Receptor Tipo 1 de Angiotensina/genética , Receptores Adrenérgicos beta 2/genética , Receptores de Dopamina D1/genética , Receptores de Tromboxano A2 e Prostaglandina H2/genética , Fatores de RiscoRESUMO
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.
Assuntos
Transtornos Globais do Desenvolvimento Infantil/genética , Epistasia Genética , Integrina beta3/genética , Polimorfismo de Nucleotídeo Único , Receptor 5-HT2A de Serotonina/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Criança , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Pré-Escolar , Colômbia/epidemiologia , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Serotonina/fisiologia , Avaliação de SintomasRESUMO
Los endofenotipos son rasgos presentes antes de la aparición de un trastorno y podrían ser útiles para identificar genes de susceptibilidad. Se determinó si personas con esquizofrenia y sus familiares de primer grado no afectados tenían un desempeño menor que los controles en la Tarea de Multitransformación de Expresión Emocional, que mide reconocimiento de emociones faciales. Las personas con esquizofrenia y sus familiares mostraron menor sensibilidad o requirieron más intensidad para identificar emociones que los controles. La exactitud para identificar emociones fue similar entre familiares y controles, pero menor en aquellos con esquizofrenia. Esto sugiere que la sensibilidad para el reconocimiento de emociones faciales es un endofenotipo de la esquizofrenia.
Endophentoypes are the traits present before the appearance of a disorder and could be useful to identify susceptibility genes. The purpose of this study was to determine whether persons suffering from schizophrenia and their immediate relatives performed less well than controls in the Emotional Expression Multi-transformation Task, which measures recognition of facial expressions. Persons with schizophrenia and their relatives showed less sensitivity than controls or required greater intensity to identify emotions than controls did. Accuracy in the identification of emotions was similar in relatives and controls, but lower in individuals with schizophrenia. This suggests that sensitivity in the recognition of facial emotions is an endophenotype for schizophrenia.
Os endofenótipos são traços presentes antes do surgimento de um transtorno e poderiam ser úteis para identificar genes de suscetibilidade. Determinou-se se pessoas com esquizofrenia e seus familiares de primeiro grau não afetados tinham um desempenho menor que os controles na Tarefa de Multitransformação de Expressão Emocional, que mede reconhecimento de emoções faciais. As pessoas com esquizofrenia e seus familiares mostraram menor sensibilidade ou requereram mais intensidade para identificar emoções que os controles. A exatidão para identificar emoções foi similar entre familiares e controles, mas menor naqueles com esquizofrenia. Isso sugere que a sensibilidade para o reconhecimento de emoções faciais é um endofenótipo da esquizofrenia.
RESUMO
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
Introducción. La hipertensión arterial es una enfermedad multifactorial influenciada por componentes genéticos y ambientales, cuya prevalencia varía entre grupos étnicos. Se han llevado a cabo numerosos estudios en genes de sistemas reguladores de la presión arterial, como el sistema renina-angiotensinaaldosterona, el sistema nervioso simpático, los factores endoteliales, y el balance de sodio, mostrando resultados incongruentes entre poblaciones. Objetivos. Evaluar el efecto de variantes en los genes AGT , AGTR1 , ACE , ADRB2 , DRD1 , ADD1 , ADD2 , ATP2B1 , TBXA2R y PTGS2 y del componente ancestral individual, sobre la hipertensión arterial y las cifras de presión arterial en una muestra de población antioqueña. Materiales y métodos. Se genotipificaron 107 casos y 253 controles para 12 variantes en los genes AGT , AGTR1 , ACE , ADRB2 , DRD1 , ADD1 , ADD2 , ATP2B1 , TBXA2R y PTGS2 , y para 20 marcadores informativos de ascendencia. Se evaluó la asociación de los polimorfismos y sus interacciones, y de la composición genética ancestral con hipertensión y cifras de presión arterial. Resultados. Los genes ADD2 , rs4852706 (OR=3,0; p=0,023); DRD1 , rs686 (OR=0,38; p=0,012) y ADRB2 , rs1042718 (OR=10,0; p=0,008); y combinaciones genotípicas de DRD1 con AGTR1 ; de AGT con ADD1 ; y de ADD1 con ATP2B1 y PTGS2 , se asociaron con hipertensión arterial. El componente ancestral amerindio se asoció con disminución en la presión arterial diastólica. Conclusiones. Variantes en los genes ADD2 , DRD1 , ADRB2 , AGTR1 , AGT , ADD1 , ATP2B1 y PTGS2 , individualmente o en su interacción, se encuentran asociadas con hipertensión. El componente ancestral amerindio tiene un efecto sobre las cifras de presión arterial.
Introduction: Hypertension is a multifactorial disease influenced by genetic and environmental components, with its prevalence varying across ethnic groups. Manifold studies on blood pressure regulatory system genes have been carried out -such as the renin-angiotensin-aldosterone system, the sympathetic nervous system, endothelial factor, and sodium balance-, but the results yielded were inconsistent among populations. Objectives: To evaluate the effect of both variants in genes AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R PTGS2, and the result of the individual ancestry component on hypertension and blood pressure levels among population in Antioquia. Methods and materials: 107 cases and 253 controls were genotyped for 12 variants on genes AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R y PTGS2, and for 20 ancestry informative markers. The association of polymorphisms and their interactions, and the association of ancestral genetic composition with hypertension and blood pressure levels were examined. Results: Genes ADD2, rs4852706 (OR=3.0; p=0.023); DRD1, rs686 (OR=0.38; p=0.012) and ADRB2, rs1042718 (OR=10.0; p=0.008); as well as genotypic combinations of DRD1 and AGTR1; AGT and ADD1; and ADD1 to ATP2B1 and PTGS2 were associated to hypertension. The Amerindian ancestry component was associated to some decrease in diastolic blood pressure. Conclusion: Variants on genes ADD2, DRD1, ADRB2, AGTR1, AGT, ADD1, ATP2B1 and PTGS2 individually or interacting, are associated to hypertension. The Amerindian ancestry component has an effect on blood pressure.
Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Hipertensão/genética , Angiotensinogênio/genética , Pressão Sanguínea/genética , Proteínas de Ligação a Calmodulina/genética , Colômbia , /genética , Peptidil Dipeptidase A/genética , ATPases Transportadoras de Cálcio da Membrana Plasmática/genética , Receptor Tipo 1 de Angiotensina/genética , /genética , Receptores de Dopamina D1/genética , /genética , Fatores de RiscoRESUMO
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.
Assuntos
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
La investigación realizada arroja una serie de hallazgos que corroboran los planteamientos emitidos al respecto a nivel de la literatura internacional. El trabajo por turnos rotativos es una forma de organización del trabajo en donde los trabajadores ocupan sucesivamente los mismos puestos, pudiendo ser dichos turnos de tipo continuo o discontinuo, implicando para el trabajador la necesidad de prestar sus servicios en horarios diferentes, en períodos determinados de días o semanas. Ha quedado demostrado científicamente que la realización de turnos rotativos causa diversos efectos adversos a la salud, por lo que existen medidas que pueden ser puestas en práctica para disminuir o controlar dichos efectos. En este sentido hemos realizado un estudio de tipo descriptivo transversal de prevalencia, cuyo objetivo es conocer los efectos de los turnos rotativos en 69 personas que pertenecen al personal de enfermería (entre auxiliares y enfermeras) del Hospital de Soná, en donde se les aplicó una encuesta con preguntas abiertas y cerradas, a través de las cuales se pudo detectar que el grueso del personal de enfermería se ubica en una antigüedad mayor de 5 años correspondiente al 47.8 )por ciento), por lo que podemos señalar que dicho personal cuenta con una buena experiencia en el campo de la enfermería. No obstante, existe un 33.3 (por ciento) del personal que, a pesar de su antigüedad, se encuentra realizando turnos rotativos; además del 45.7 (por ciento) que refirieron que el turno de 11:00 p.m. a 7:00 a.m. es donde mayor estrés y agotamiento físico se percibe. Es importante señalar, en cuanto al grado de conformidad, que las personas que realizan turnos rotativos en su gran mayoría manifiestan disconformidad con los turnos asignados, probablemente porque es el grupo que ejecuta los turnos de 11:00 p.m. a 7:00 a.m., en donde se registran las mayores manifestaciones de estrés y realización de esfuerzo físico. En este mismo orden se observa que los grupos...