Interaction between apolipoprotein E genotypes, excessive daytime sleepiness, and cognitive function in obstructive sleep apnea patients / Interação entre genótipos da apolipoproteína E, sonolência excessiva diurna e função cognitiva em pacientes com apneia obstrutiva do sono

Abstract Background Some studies show an association between the apolipoprotein E ε4 allele (ApoEε4) and obstructive sleep apnea syndrome (OSAS), and other studies, an association between ApoEε4 and excessive daytime sleepiness (EDS), but there are no data in the literature on the interaction between EDS, cognitive function, and ApoEε4 in patients with OSA. Objective To examine the cognitive function of adults with and without EDS and with and without ApoEε4. Methods A total of 21 male and female patients aged between 33 and 79 years, underwent a clinical interview, ApoE genotyping, neuropsychological evaluation, polysomnography, and the application of the Epworth Sleepiness Scale. Results Excessive daytime sleepiness was associated with lower intelligence quotient (IQ; total performance) and worse immediate visual memory, regardless of the ApoE genotype. Patients carrying the ApoEε3/ε4 genotype had a worse performance in divided attention, constructional praxis, perceptual organization, and cognitive flexibility. A combination of the ε4 allele and EDS potentiates the negative effect on cognition, except for immediate visual memory. In this case, patients had a worse performance in terms of processing speed, selective attention, and visuomotor coordination. Conclusions Excessive daytime sleepiness and the ApoEε3/ε4 genotype are associated with worse cognitive performance in OSA patients. The combination of EDS and ε4 allele potentiates cognitive impairment.

Resumo Antecedentes Alguns estudos mostram uma associação entre o alelo ε4 da apolipoproteina E (ApoEε4) e a síndrome da apneia obstrutiva do sono (SAOS), e outros, entre ApoEε4 e a sonolência excessiva diurna (SED), mas não há dados na literatura sobre a interação entre SED, função cognitiva e ApoEε4 em pacientes com SAOS. Objetivo Avaliar a função cognitiva em adultos com SAOS com e sem SED e com e sem ApoEε4. Métodos Ao todo, 21 pacientes, de 33 a 79 anos, homens e mulheres, foram avaliados clinicamente, e submetidos a genotipagem ApoE, avaliação neuropsicológica, polissonografia, e aplicação da Escala de Sonolência de Epworth. Resultados A SED esteve associada com menor quociente de inteligência (QI; desempenho geral) e pior memória visual imediata, independentemente do genótipo ApoE. Pacientes com genótipo ApoEε3/ε4 apresentaram pior desempenho na atenção dividida, praxe construcional, organização perceptiva e flexibilidade cognitiva. A combinação do alelo ε4 com a SED potencializa esse efeito deletério na cognição, exceto na memória visual imediata. Nesse caso, os pacientes tiveram uma menor velocidade de processamento cognitivo, e piores atenção seletiva e coordenação visiomotora. Conclusões A SED e o genótipo ApoEε3/ε4 estão associados a um pior desempenho cognitivo em pacientes com SAOS. A combinação de SED e do alelo ε4 potencializa esse efeito.

Frecuencias genotípicas y alélicas de apolipoproteina e (APOE) en una muestra de adultos en Bogotá / Genotypic and allelic frequencies of apolipoprotein e (APOE) in a sample of adults in bogotá

Introducción: la apolipoproteína E (APOE) es una glicoproteína implicada en el transporte de moléculas lipídicas. Se han descrito tres alelos del gen APOE: Ɛ2, Ɛ3 y Ɛ4. Varios estudios demuestran asociación de la isoforma APOE4 con Alzheimer de inicio tardío. Objetivos: determinar las frecuencias genotípicas y alélicas del gen APOE en una muestra de adultos en Bogotá. Materiales y métodos: estudio observacional descriptivo de corte transversal. A partir de una muestra de sangre periférica se extrajo ADN genómico y se realizó PCR-Tetraprimer para la determinación de los alelos de APOE. Resultados: se incluyeron 1.254 sujetos, 942 mujeres (75%) y 312 hombres (25%) con edades entre 40 y 100 años. El alelo más frecuente fue el Ɛ3 (85%), seguido por Ɛ4 (11%) y Ɛ2 (2%). De la población que manifestó tener ascendencia cundiboyacense, 567 sujetos (74.6%) presentaban el genotipo Ɛ3/Ɛ3, mientras que 156 (20.4%) el Ɛ3/Ɛ4, 23 (3%) el Ɛ2/Ɛ3, 11 (1.5%) el Ɛ4/Ɛ4y 4 (0.5%) el Ɛ2/Ɛ4. Los individuos con genotipoƐ2/Ɛ2 manifestaron no conocer el dato de ascendencia. Conclusiones: las frecuencias alélicas y genotípicas de APOE varían según el origen étnico, sin embargo es posible la identificación de sujetos con el genotipo menos frecuente (Ɛ2/Ɛ2) al analizar muestras de mayor tamaño. En los reportes previos en el país no se ha descrito el genotipo Ɛ2/Ɛ2, el cual fue identificado en la presente muestra como el de menor proporción.

Introduction:apolipoprotein E (APOE) is a glycoprotein involved in the transport of lipid molecules. Three alleles of the APOE gene have been described: Ɛ2, Ɛ3 and Ɛ4. Several studies show an association of the APOE isoform with late-onset Alzheimer ́s disease. Objectives: to determine the genotypic and allelic frequencies of the APOE gene in an adult sample in Bogotá. Materials and Methods: a cross-sectionalobservational descriptive study. Genomic DNA was extracted from a peripheral blood sample and APOE alleles and genotypes were determined using the PCR tetra-primer method. Results:we included 1254 subjects, 942 women (75%) and 312 men (25%) aged between 40 and 100 years. The most frequent allele was Ɛ3 (85%), followed by Ɛ4 (11%) and Ɛ2 (2%). Of the population that declared to have Cundinamarca and Boyacá sub-regions ancestry, 567 subjects (74.6%) had genotype Ɛ3/Ɛ3, while 156 (20.4%) hadƐ3/Ɛ4, 23 (3%) Ɛ2/Ɛ3, 11 (1.5%) Ɛ4/Ɛ4and 4 (0.5%) had genotype Ɛ2/Ɛ4.The individuals with genotype Ɛ2/Ɛ2 declared not to know the data on their ancestry. Conclusions: the allelic and genotypic frequencies of APOE vary according to ethnic origin. However identifying subjects with the less frequent genotype (Ɛ2/Ɛ2) is possible when analyzing larger samples. In previous reports in the country, genotype Ɛ2/Ɛ2, has not been described and was identified in the present sample as the one with the lowest proportion.

Análisis del polimorfismo del gen APOE en la población de Barranquilla, Colombia / APOE gene polymorphism analysis in Barranquilla, Colombia

Introducción. La variabilidad genética del polimorfismo del gen APOE se considera un importante factor asociado a la predisposición a las enfermedades que afectan el metabolismo lipídico, a las enfermedades coronarias y a la enfermedad de Alzheimer, entre otras. En este sentido, es útil conocer este factor de riesgo en diferentes poblaciones y grupos étnicos. Objetivos. Analizar el polimorfismo del gen APOE y determinar las frecuencias alélicas y genotípicas de una muestra representativa de la población de Barranquilla, Colombia. Materiales y métodos. Se hizo en Barranquilla un estudio descriptivo y comparativo de 227 individuos no relacionados. Resultados. El alelo e3 se presentó con mayor frecuencia (85 %), seguido del alelo e4 (13 %) y, con menor frecuencia, el alelo e2 (1,8 %). Los genotipos observados fueron los siguientes: e3/e3 en 71,8 %, e3/e4 en 24,2 %, e2/e3 en 2,2 %, e2/e4 en 1,3 % y e4/e4 en 0,4 %. El genotipo e2/e2 no se encontró en este estudio. La muestra representativa de la población estaba en equilibrio de Hardy-Weinberg. Conclusiones. Las frecuencias alélicas e3 y el genotipo e3/e3 encontrados en la población estudiada, fueron similares a lo informado por la literatura científica en países como Brasil, México y Colombia, y en algunos grupos étnicos amerindios colombianos. No se encontró el genotipo e2/e2, resultado que coincide con otras poblaciones estudiadas a nivel mundial. La frecuencia del alelo e4 y sus genotipos asociados en esta población, podría estar relacionada con la presencia de enfermedades como la hipercolesterolemia, el infarto de miocardio y la enfermedad de Alzheimer.

Introduction: The genetic variability present in the APOE gene polymorphism is considered an important factor associated with predisposition to diseases affecting lipid metabolism , as well as heart diseases and Alzheimer´s disease, among others. Understanding it as a risk factor in different populations and ethnic groups is a useful tool. Objective: To analyze the APOE gene polymorphism and determine allelic and genotypic frequencies of a representative sample of population from Barranquilla, Colombia. Materials and methods: We performed a descriptive and comparative study. The sample size was 227 unrelated individuals from Barranquilla, Colombia Results: The most frequent allele was the e 3, with 85%, followed by the e 4 allele (13%) and e 2 (1.8%). The genotypes found were: e 3/ e 3: 71.8%, e 3/ e 4: 24.2%, e 2/ e 3: 2.2%, e 2/ e 4: 1.3% and e 4/ e 4: 0.4%. The e 2/ e 2 genotype was not found in this study. The sample exhibited the Hardy-Weinberg equilibrium. Conclusion : The frequency of the e 3 allele and the e 3/ e 3 genotype was similar to that reported in the literature in countries like Brazil, Mexico, Colombia, and in some Colombian Amerindian ethnic groups. The e 2/ e 2 genotype was absent. This result is consistent with those found in other population groups worldwide. The frequency of the e 4 allele and the genotypes associated in this population could be related to the presence of diseases such as hypercholesterolemia, myocardial infarction and Alzheimer.

APOE and LDLR Gene Polymorphisms and Dyslipidemia Tracking. Rio de Janeiro Study / Polimorfismos dos Genes APOE e RLDL e Tracking de Dislipidemia em Jovens. Estudo do Rio de Janeiro

Background: Studies show an association between changes in apolipoprotein E (ApoE) and LDLR receptor with the occurrence of dyslipidemia. Objectives: To investigate the association between polymorphisms of the APOE (ε2, ε3, ε4) and LDLR (A370T) genes with the persistence of abnormal serum lipid levels in young individuals followed up for 17 years in the Rio de Janeiro Study. Methods: The study included 56 individuals (35 males) who underwent three assessments at different ages: A1 (mean age 13.30 ± 1.53 years), A2 (22.09 ± 1.91 years) and A3 (31.23 ± 1.99 years). Clinical evaluation with measurement of blood pressure (BP) and body mass index (BMI) was conducted at all three assessments. Measurement of waist circumference (WC) and serum lipids, and analysis of genetic polymorphisms by PCR-RFLP were performed at A2 and A3. Based on dyslipidemia tracking, three groups were established: 0 (no abnormal lipid value at A2 and A3), 1 (up to one abnormal lipid value at A2 or A3) and 2 (one or more abnormal lipid values at A2 and A3). Results: Compared with groups 0 and 1, group 2 presented higher mean values of BP, BMI, WC, LDL-c and TG (p < 0.01) and lower mean values of HDL-c (p = 0.001). Across the assessments, all individuals with APOE genotypes ε2/ε4 and ε4/ε4 maintained at least one abnormal lipid variable, whereas those with genotype ε2/ε3 did not show abnormal values (χ2 = 16.848, p = 0.032). For the LDLR genotypes, there was no significant difference among the groups. Conclusions: APOE gene polymorphisms were associated with dyslipidemia in young individuals followed up longitudinally from childhood. .

Fundamento: Estudos demonstram a associação de alterações da apolipoproteína E (APOE) e do receptor da RLDL com a ocorrência de dislipidemia. Objetivos: Investigar a associação entre polimorfismos dos genes da APOE (APOE - ε2, ε3, ε4) e do receptor da LDL (RLDL - A370T) com a persistência de alterações dos níveis lipídicos séricos em jovens acompanhados há 17 anos no Estudo do Rio de Janeiro. Métodos: Foram estudados 56 indivíduos (35 masculinos) em três avaliações realizadas em idades distintas: A1 – média de idade: 13,30 ± 1,53 anos; A2 – média de idade: 22,09±1,91 anos e A3 – média de idade: 31,23±1,99 anos. Nas três avaliações foram determinados a pressão arterial (PA) e o índice de massa corporal (IMC). Em A2 e A3 foram obtidos a circunferência abdominal (CA) e os lípides séricos, e analisados os polimorfismos genéticos por PCR-RFLP. Com base no tracking de dislipidemia, três grupos foram constituídos: 0 (nenhum lípide alterado em A2 e A3), 1 (até um lípide alterado em A2 ou A3) e 2 (um ou mais lípides alterados em A2 e A3). Resultados: Em comparação aos grupos 0 e 1, o grupo 2 apresentou maiores médias de PA, IMC, CA, LDL-c e TG (p < 0,01) e menor média de HDL-c (p = 0,001) que os grupos 0 e 1. Todos os indivíduos com genótipo APOE ε2/ε4 e ε4/ε4 mantiveram durante as avaliações pelo menos um lípide alterado, enquanto que aqueles com genótipo ε2/ε3 não apresentaram alterações (χ2=16,848, p = 0,032). Para os genótipos RLDL não houve diferença significativa entre os grupos. Conclusões: O polimorfismo do gene APOE se associou à presença de dislipidemia em indivíduos jovens em acompanhamento longitudinal desde a infância. .

Lipoprotein glomerulopathy: a case report of a rare disease in a brazilian child / Glomerulopatia por lipoproteinas: relato de caso de uma doenca rara em crianca brasileira

Lipoprotein glomerulopathy (LPG) is a rare autosomal recessive glomerulopathy associated with the deposition of lipoprotein thrombi in the capillary lumina due to apoE gene mutations. Abnormal plasma lipoprotein profile and marked increase in serum apoliprotein E (apoE) are characteristic clinical data. The compromised patients can present nephrotic syndrome, hematuria, and progressive renal failure. Herein, the authors present the first described case of LPG in a Brazilian male patient, 11 years, who presented with a steroid-resistant nephrotic syndrome. Renal function was normal. Kidney biopsy showed markedly enlarged glomerulus, with dilated capillary loops and weak eosinophilic lipoprotein thrombi in the capillary lumina. Interstitium, tubules, arteries, and veins showed normal histologic aspect. Genotypic study for the apoE gene showed the presence of the alleles E3 and E4. The diagnosis of LPG was then performed. The patient received lipid-lowering treatment. After 2 years of follow-up, renal function is gradually decreasing, with persisting heavy proteinuria, despite a marked decrease in serum cholesterol and triglycerides levels.

A Glomerulopatia por Lipoproteínas (GLP) é uma glomerulopatia autossômica recessiva rara associada à deposição de trombos de lipoproteína nos lúmens capilares devido a mutações do gene de ApoE. Perfil anormal das lipoproteínas do plasma e aumento acentuado no soro de apolipoproteína E (apoE) são dados clínicos característicos. Os pacientes acometidos podem apresentar síndrome nefrótica, hematúria e insuficiência renal progressiva. Aqui, os autores apresentam o primeiro caso descrito de GLP em um paciente brasileiro do sexo masculino, 11 anos, que se apresentou com uma síndrome nefrótica corticoide resistente. A função renal era normal. A biópsia renal mostrou glomérulos marcadamente aumentados, com capilares dilatados e lúmens ocupados por trombos de lipoproteínas fracamente eosinofílicos. Interstício, túbulos, artérias e veias mostraram aspecto histológico normal. O estudo genotípico para o gene apoE mostrou a presença dos alelos E3 e E4. O diagnóstico de GLP foi então realizado. A paciente recebeu tratamento hipolipemiante. Depois de 2 anos de seguimento, a função renal está diminuindo gradualmente, com a persistência de marcada proteinúria, apesar de uma diminuição acentuada dos níveis séricos de colesterol e triglicerídios.

Polimorfismos del gen ApoE en individuos con síndrome de Down y sus progenitores en una población colombiana / APOE gene polymorphisms associated with Down syndrome in Colombian populations

Introducción. Los polimorfismos en el gen ApoE se han examinado en el síndrome de Down debido a la relación existente de la isoforma E4 con la demencia de tipo Alzheimer que aparece en los individuos con síndrome de Down. Objetivos. Determinar los polimorfismos en el gen ApoE en individuos con síndrome de Down y sus progenitores, y buscar su asociación. Materiales y métodos. Mediante PCR-RFLP, se analizaron los polimorfismos del gen ApoE en 134 individuos jóvenes con síndrome de Down, 87 madres y 54 padres del eje cafetero, y se compararon con una población control de 525 individuos sanos. Resultados. El alelo APOEε3 y el genotipo ε3/ε3 fueron los más frecuentes en todas las poblaciones. La frecuencia alélica de APOEε2 es muy baja y ε2/ε2 está ausente en las poblaciones con síndrome de Down y sus progenitores. El alelo APOEε4 fue más frecuente en individuos con síndrome de Down que en el resto de poblaciones analizadas. Al comparar las frecuencias alélicas y genotípicas entre las poblaciones con síndrome de Down y los progenitores con la población control, mediante la c2 de Pearson y los odds ratios por la prueba exacta de Fisher, no se encontraron diferencias estadísticamente significativas. Conclusiones. No se encontró asociación entre los polimorfismos del gen ApoE y el síndrome de Down. Es posible que el tamaño de la muestra o las influencias étnicas hubieran afectado estos resultados. Es necesario hacer otros estudios en poblaciones colombianas y evaluar la asociación con otros genes que se encuentran relacionados con la enfermedad de Alzheimer.

Introduction.Gene APOEε4 allele polymorphisms have been examined in Down syndrome because of the relationship between (a) the E4 isoform and (b) the type of Alzheimer´s dementia that appears in individuals with Down syndrome. This isoform is considered a risk factor for Alzheimer´s disease development and has been associated with early death in Down syndrome. Objectives. The polymorphisms in the APOE gene were characterized for Down syndrome individuals and their parents, in order to detect associations between the APOE polymorphisms and Down syndrome. Materials and methods. APOE gene polymorphisms were detected by RFLP-PCR and analyzed in 134 young individuals with Down syndrome, 87 mothers and 54 fathers, residents of the departments of Quindío and Risaralda, Colombia. The controls were 525 healthy individuals. Results. The APOEε3 allele and ε3/ε3 genotype were most frequent in all the populations (83-90% and 70-78%). The allelic frequency of APOEε2 was very low and ε2/ε2 (3-7%) was absent in Down syndrome and their parents. The allele APOEε4 was more frequent (11% vs. 9%) in Down syndrome individuals than in the controls. Comparing the allelic and genotypic frequencies between the populations with Down syndrome and their parents with the controls using Pearson c2 test and Fisher´s exact test odds ratio, no statistically significant differences were found. Conclusions. No statistically significant association was found between the polymorphisms of the APOE gene and Down syndrome. Sample size or ethnic influences may have affected these results. More studies are necessary with other Colombian populations to determine possible associations in other genes related to Alzheimer´s disease.

Influência do gene da apolipoproteína-E sobre a relação perfíl lipídico, atividade física e gordura corporal / Influence of apolipoprotein-E gene on lipid profile, physical activity and body fat relationship

A atividade física e a gordura corporal modulam a lipemia, e esse efeito parece ser influenciado pelo polimorfismo do gene da apolipoproteina-E (APOE). Desse modo, a presente revisão tem como objetivo sintetizar os principais resultados de pesquisas que abarcaram a interação do gene APOE acerca do efeito da atividade física e gordura corporal sobre as concentrações de triglicerídeos, colesterol total e lipoproteína de baixa (LDL) e alta densidade (HDL). Os artigos foram buscados nas bases de dados Scientific Electronic Library Online - SciELO, Web of Science e PubMed. As palavras-chave utilizadas em combinação foram: genótipos APOE, polimorfismo da apoliproteína-E, exercício físico, atividade física, exercício aeróbio, gordura corporal e obesidade. Foram incluídos artigos originais realizados com seres humanos, e excluídos aqueles que envolveram amostras com doenças, exceto obesidade e/ou distúrbios lipêmicos. Os resultados sugerem que os portadores do alelo ε2 são os que mais se beneficiam dos efeitos da atividade física sobre a lipemia. Ademais, a gordura corporal parece agir de forma mais pronunciada sobre a elevação dos triglicerídeos e das LDLs nos portadores do alelo ε2 e ε4, respectivamente. Entretanto, inferências seguras ainda não podem ser feitas acerca da alteração do polimorfismo da APOE, no efeito da atividade física e da gordura corporal sobre a lipemia, haja vista o reduzido número de trabalhos e suas divergências. Assim, se fazem necessárias novas pesquisas que analisem outras populações e um maior número de voluntários por alelo, bem como outras modalidades e intensidades de exercício físico.

Physical activity and body fat modify lipemia, and this effect seems to be influenced by apolipoprotein - E (APOE) gene polymorphism. Thus, the purpose of this article was to review main results of studies that have analyzed the relation of APOE gene with physical activity and body fat on triglycerides, total cholesterol and low (LDL) and high density lipoprotein (HDL) concentrations. The Scientific Electronic Library Online - SciELO, Web of Science and PubMed database were used to locate the articles. The keywords used in combination were: apoe genotype, apolipoprotein - E polymorphism, physical exercise, physical activity, aerobic exercise, body fat and obesity. Originals scientific investigations performed with humans were included, and excluded those ones which involved samples with diseases, except obesity and/or lipemic disorders. It was observed a trend, that ε2 allele carriers are the ones with the greater improvements on lipemia from physical exercise. In addition, the body fat impact on the elevation of triglycerides and LDL are stronger in carriers of the ε2 and ε4 allele, respectively. Considering the small number of originals scientific investigations and their divergent results, reliable inferences can not be made about the APOE gene polymorphism influences on physical activity and body fat effect on lipemia. Thus, further studies with others populations and more volunteers for allele, as well as others exercise modalities and intensities, are necessary.

Polimorfismo genético de la Apolipoproteína E en una población peruana / Genetic polymorphism of Apolipoprotein E in a peruvian population

Objetivos. Determinar las frecuencias genotípicas y alélicas del gen APOE en una muestra poblacional peruana. Materiales y métodos. Estudio transversal analítico en 189 trabajadores voluntarios, aparentemente sanos, del Instituto Nacional de Ciencias Neurológicas en Lima, Perú, divididos en cinco grupos según departamento de origen y ascendencia en dos generaciones. El ADN genómico fue amplificado mediante PCR-RFLP. Se realizó la detección de los fragmentos resultantes por electroforesis en gel de poliacrilamida al 12 por ciento. Resultados. El alelo ε3 es el más frecuente en todos los grupos (93,9 por ciento), con bajas frecuencias de los alelos ε4 (5 por ciento) y ε2 (1,1 por ciento). El anαlisis de heterocigosidad (H) en cada grupo muestra una diversidad intermedia entre 10 y 20 por ciento. Las diversidades genιticas poblacional (Ht) e intrapoblacional (Hs), son 14,4 y 14,3 por ciento respectivamente, sugiriendo proximidad genética entre los grupos estudiados para el polimorfismo ApoE. Conclusiones. Las frecuencias alélicas del gen ApoE encontradas muestra que el alelo ε3 tiene una de las frecuencias más altas y, el alelo ε4, una de las más bajas respecto a otros grupos poblacionales del mundo, con posibles implicancias en el riesgo para enfermedades neurológicas, cardiovasculares y otras en nuestro país.

Objectives. To determine the allelic and genotypic frequencies of the APOE gene in a sample of a population group in Peru. Materials and methods. Cross-sectional analytic study in 189 apparently healthy volunteers, workers of the Instituto Nacional de Ciencias Neurológicas in Lima, Perú, divided into 5 groups by birth department and two generations ancestry. Genomic DNA was amplified using PCR-RFLP. The resulting fragments were detected by 12 percent polyacrylamide gel electrophoresis. Results. The ε3 allele is the most frequent in all the groups (93.9 percent), with low ε4 (5 percent) and ε2 (1.1 percent) allele frequencies. The analysis of heterozygosity (H) for each group displays intermediate diversity between 10 and 20 percent. Population genetic diversity (Ht) and diversity within populations (Hs) are 14.43 percent and 14.31 percent respectively, suggesting genetic proximity between the studied groups for the ApoE polymorphism. Conclusions. Allele frequencies of the ApoE gene found show that allele ε3 has one of the highest frequencies and ε4 allele one of the lowest compared to other population groups in the world, with possible implications in the risk of neurological, cardiovascular and other diseases in our country.

Deterioro cognitivo, nivel educativo y ocupación en una población de una clínica de memoria / Cognitive impairment, education and occupation in a memory clinic population

Introducción: Factores sociodemográficos y genéticos se han relacionado con el desarrollo del deterioro cognitivo y la progresión a demencia. Método: En este estudio se evaluaron características sociodemográficas junto con el genotipo de la apolipoproteína E (ApoE) en individuos mayores de 55 años de edad con deterioro cognitivo leve (DCL) y demencia tipo Alzheimer (DTA) atendidos en una clínica de la memoria. Resultados: De los individuos que consultaron la clínica de la memoria en un período de cuatro años, 155 (36%) cumplieron los criterios de inclusión y se clasificaron en grupos diagnósticos de acuerdo con la cuarta edición revisada del Manual diagnóstico y estadístico de los trastornos mentales (DSM-IV-TR) y los criterios del National Institute of Neurological and Communicative Disorders and Stroke and Alzheimer’s Disease and Related Disorders Association (NINCDS-ADRDA). Los individuos con DTA y DCL se dedicaron más a ocupaciones predominantemente manuales durante el transcurso de la vida que los individuos cognitivamente sanos (p=0,014). Un porcentaje alto de los individuos con DCL y cognitivamente sanos (43%) dejaron su ocupación principal o cambiaron a una predominantemente manual después del retiro laboral. No se encontraron otros factores asociados con el deterioro cognitivo, entre éstos polimorfismos en ApoE. Conclusión: Estos resultados sustentan una relación entre la ocupación principal durante el transcurso de la vida y el desarrollo de deterioro cognitivo después de los 55 años...

Introduction: Socio-demographic and genetic factors have been involved in the development of cognitive impairment and its progression to dementia. Method: The present study evaluates socio-demographic characteristics and the ApoE genotype in individuals older than 55 years with mild cognitive impairment (MCI) and Alzheimer’s disease (AD), attending a memory clinic. Results: 155 individuals (36%) out of the total population who attended the memory clinic in a four-year period met the inclusion criteria. The study population was classified in diagnostic groups according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) and to the National Institute of Neurological and Communicative Disorders and Stroke and Alzheimer’s Disease and Related Disorders Association (NICNCDS-ADRDA) criteria. More AD and MCI individuals worked in mainly manual occupations throughout their lifetime compared to cognitively unimpaired individuals (p=0.014). A high percentage of individuals with MCI and of cognitively unimpaired individuals (43%) left their primary occupation or changed it for a mainly manual occupation after their retirement. No other factors associated to the cognitive impairment, including ApoE genotype, were found. Conclusion: These results support a correlation between the primary occupation during lifetime and the development of cognitive impairment in individuals older than 55 years...