Polymorphisms of apolipoprotein E in the Afro-descendant population of Buenaventura, Colombia / Polimorfismos del gen de la apopoliproteína E en la población afrodescendiente de Buenaventura, Colombia

ABSTRACT Objetives: To estimate the frequency distribution, both allelic and genotypic, of the APOE gene in the Afro-descendant population of Buenaventura, Colombia. Methods: Three hundred and forty-eight Afro-descendant individuals were analyzed and the APOE locus was genotyped by PCR-RFLP. The allelic and genotypic frequencies were established by direct counting and the Hardy-Weinberg equilibrium was evaluated through X2 test. The frequencies obtained in this study were compared with frequencies reported for other Colombian populations through the Fisher's exact test. Results: The following allelic frequencies were observed: E3, 70.8%; E4, 21.4%, and E2, 7.8%. The genotypic frequencies were: E3/E3, 51.1%; E3/E4, 27.3%; E2/E3, 12.1%; E4/E4, 6%; E2/E4, 3.5%, and E2/E2, 0%. The entire examined population was found in Hardy-Weinberg equilibrium (P = .074), and significant differences were found in the allele E4 when comparing this population with the Amerindian and mestizo populations of Bogotá, Quindío, Centro-Oriente, Valle del Cauca, Barranquilla and Medellín (P< 0.0345). Conclusions: The allelic frequencies observed in this study were significantly different from the frequencies reported in other Colombian populations. The high representativeness of the E4 and E2 alleles validates the hypothesis that there are micro-evolutionary processes that have been acting on their frequencies and could be associated with susceptibility to neuropsychiatric diseases such as Alzheimer's disease, metabolic alterations of fats and/or coronary artery disease.

RESUMEN Objetivos: Estimar la distribución de frecuencias tanto alélicas como genotípicas del gen APOE en la población afrodescendiente de Buenaventura, Colombia. Métodos: Mediante la técnica de PCR-RFLP's se analizaron 348 individuos no relacionados de esta ciudad. Se realizó el cálculo de frecuencias alélicas y genotípicas y se evaluó el equilibrio de Hardy-Weinberg mediante la prueba de la X2. Se compararon las frecuencias alélicas obtenidas en el presente estudio con otras poblaciones de Colombia mediante el test exacto de Fisher. Resultados: Se reportaron las siguientes frecuencias alélicas: E2, 7,8%; E3, 70,8%, y E4, 21,4%. Las frecuencias genotípicas fueron: E3/E3, 51,1%; E3/E4,27,3%; E4/E4,6%; E2/E3,12,1%; E2/E4, 3,5%, y E2/E2, 0%. La población total se encontró en equilibrio de Hardy-Weinberg (p = 0,074), y se hallaron diferencias significativas en el alelo E4 al comparar esta población con las amerindias y mestizas de Bogotá, Quindío, Centro-Oriente, Valle del Cauca, Barranquilla y Medellín (p < 0,0345). Conclusiones: Las frecuencias alélicas observadas fueron significativamente diferentes de las frecuencias reportadas en otras poblaciones de Colombia. La alta representatividad de los alelos E4 y E2 validan la hipótesis de que hay procesos microevolutivos que han venido actuando en sus frecuencias y pueden estar asociadas con susceptibilidad a enfermedades neuropsiquiátricas como la enfermedad de Alzheimer, alteraciones metabólicas de las grasas y/o enfermedad coronaria.

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil / Prevalence of hemoglobin variants in quilombola communities in the state of Piauí, Brazil

Resumo As hemoglobinas variantes (Hb) decorrem de mutações nos genes da globina. As variantes estruturais mais frequentes são HbS, HbC, HbD e HbE. O gene da hemoglobina S tem frequência elevada na América, enquanto que no Brasil é maior no Sudeste e Nordeste. O presente artigo tem por objetivo investigar a presença de hemoglobinas variantes em 15 comunidades quilombolas do estado do Piauí. Foram analisadas 1.239 amostras, nas quais as hemoglobinas foram triadas pela cromatografia líquida de alta eficiência (HPLC). Aplicou-se questionário referente a gênero, etnia e consanguinidade das populações. Das 1.239 amostras, 5,4% apresentaram o traço falciforme AS, as doenças falciformes SS e SC apareceram em 0,8% do total, nas hemoglobinas AC, AD e DD. Das 1.069 pessoas negras, 84 apresentaram alteração das hemoglobinas; destas, 34 eram do sexo masculino e 53 do feminino. Ocorreu a presença de 13 casamentos consanguíneos dentre as 84 alterações das hemoglobinas. O estudo das hemoglobinas variantes em 15 comunidades remanescentes de quilombos do Piauí contribui para sua educação em saúde frente aos aspectos da herança genética destas proteínas, relevante questão de saúde pública, proporcionando subsídios para a implantação do Programa Estadual da Doença Falciforme do Piauí.

Abstract Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC). A questionnaire was applied related to gender, ethnicity and consanguinity. Of the samples analyzed, 5.4% had AS sickle cell trait, while SS and SC sickle cell anemia showed a rate of 0.8%, with AC, AD and DD hemoglobin. Of the 1,069 Afro-descendants, 84 revealed hemoglobin abnormalities, 34 being male 53 being female. There were 13 consanguineous marriages among the 84 hemoglobin alterations. The study of hemoglobin variants in 15 former quilombo communities in the state of Piaui contributes to their education in health in the aspects of genetic inheritance of hemoglobin, a relevant public health issue, providing input for the implementation of the State Program of Sickle Cell Disease of Piaui.

Alimentos autóctonos de las comunidades indígenas y afrodescendientes de Colombia / Foods native to indigenous and afro-descendents in Colombia

El objetivo de presente estudio fue conocer qué consumen las comunidades indígenas y poblaciones afrodescendientes en Colombia, ya que es importante para los programas sociales como los del Instituto Colombiano de Bienestar Familiar (ICBF). En este trabajo se obtuvo información de alimentos autóctonos en comunidades indígenas y afrodescendientes de diez departamentos colombianos (Cauca, Nariño, Amazonas, Chocó, Guainía, Vichada, Magdalena, Guajira, Cesar, Vaupés). Se aplicó una ficha técnica donde se indagaba ubicación e información personal del encuestado, nombre y tipo del alimento, grupo que lo consume, clima en el que se produce, épocas de cosecha, forma de consumo, preparaciones, propiedades, producción actual, uso y ubicación. Se entrevistó grupos ó personas clave como madres comunitarias del ICBF, autoridades indígenas, docentes, médicos tradicionales, entre otros, bajo la supervisión de profesionales de la unidad móvil del ICBF en cada departamento y se obtuvo información bibliográfica (n=123 documentos). De los departamentos seleccionados se visitaron 13 ciudades y se encuestaron 139 personas donde se reportaron 92 nuevos alimentos entre carnes, vegetales y otros, referenciando como nuevo alimento aquel que no se encontrara en la Tabla de Composición de Alimentos Colombianos. De los 92 alimentos, se obtuvo el nombre científico para 62. De estos, 2 se catalogaron como otro, 18 como cárnicos, 3 como insectos y 39 como plantas repartidos en frutos (n=29), hojas (n=4), semilla (n=3) y raíces (n=3). Las comunidades afro-descendientes e indígenas colombianos reportan consumir decenas de alimentos que hoy en día no se encuentran en la Tabla de Composición de Alimentos Colombianos.

For social programs in Colombia, like those administered by the Instituto Colombiano de Bienestar Familiar (ICBF), it’s important to know what native foods minority groups consume. This research obtained information on native foods consumed by indigenous and afro-descendents living in 10 Colombian departments: Cauca, Nariño, Amazonas, Chocó, Guainía, Vichada, Magdalena, Guajira, Cesar y Vaupés. A questionnaire was applied to key informants (individually or in groups), addressing the following topics: personal information on the informant, name and type of food, if consumed by indigenous and/or afro-Colombians, climate where produced, time of year when harvested, if consumed raw or cooked, preparations, properties ascribed to the food, and current production, use and availability. Key informants included participants in ICBF’s programs, indigenous authorities, teachers, traditional healers, and others, under the supervision of professionals from ICBF’s mobile unit in each department. Bibliography (n=123 documents) was compiled and reviewed. In the departments selected, 13 municipalities were visited, 139 individuals were interviewed and at least 92 new foods (i.e., not currently included in the Colombian Food Composition Table) were identified. Among the 92, the scientific name was obtained for 62 foods. Of these, 2 were classified as other, 18 as meats, 3 as insects, and 39 as plants. Among the plants, informants mentioned fruit (n=29), leaves (n=4), seed (n=3) and roots (n=3). Indigeneous and afro-descendent communities in Colombia report consuming dozens of foods that are not currently in the Colombian Food Composition Table.