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1.
Rev. bras. enferm ; 73(4): e20180918, 2020. tab
Article in English | LILACS, BDENF | ID: biblio-1101522

ABSTRACT

ABSTRACT Objectives: to compare the metabolic, anthropometric, tobacco and alcohol consumption indicators considered as risk factors for cardiovascular diseases, as well as the demographic and socioeconomic characteristics between indigenous from Rio Negro, Sateré-Mawé, mixed-race/black and white people living in the city of Manaus. Methods: a cross-sectional observational study guided by the STROBE tool. There was a sample of 191 adults of both sexes. Anthropometric measurements, blood pressure and biochemical analyzes were performed. Statistical test was applied to cross color/race/ethnicity variable with the investigated variables. Results: indigenous had better metabolic and anthropometric indicators related to cardiovascular diseases than mixed-race/black and white, as well as Sateré-Mawé in relation to Rionegrinos (from Rio Negro). Conclusions: the main differences were obesity, dyslipidemia, pre-systemic arterial hypertension/systemic arterial hypertension, and increased circumferences, with a worse situation for mixed-race/black people. The findings indicate differences in risk factors between race/color and ethnicity groups evaluated.


RESUMEN Objetivos: comparar los indicadores metabólicos, antropométricos, de consumo de tabaco y alcohol considerados como factores de riesgo para enfermedades cardiovasculares, así como las características demográficas y socioeconómicas entre los indígenas del Rio Negro, Sateré-Mawé, población de raza mixta/negra y blanca que viven en la ciudad de Manaus. Métodos: estudio observacional transversal, guiado por la herramienta STROBE. La muestra consistió en 191 adultos de ambos sexos. Se realizaron mediciones antropométricas, presión sanguínea y análisis bioquímicos. La prueba estadística se aplicó a la variable de color/raza/etnia con las variables investigadas. Resultados: los indígenas tenían mejores indicadores metabólicos y antropométricos relacionados con las enfermedades cardiovasculares que los de raza mixta/negros y blancos, así como los Sateré-Mawé en relación con los rionegrinos (del Rio Negro). Conclusiones: las principales diferencias fueron: obesidad, dislipidemia, pre-hipertensión arterial sistémica/ hipertensión arterial sistémica y aumento de las circunferencias, con una situación peor para los raza mixta/negros. Los resultados indican diferencias en los factores de riesgo entre los grupos de raza/color y etnia evaluados.


RESUMO Objetivos: comparar os indicadores metabólicos, antropométricos, de consumo de tabaco e álcool, considerados como fatores de risco para doenças cardiovasculares, assim como as características demográficas e socioeconômicas entre indígenas do Rio Negro, Sateré-Mawé, Pardos/Negros e Brancos que residem na cidade de Manaus. Métodos: estudo observacional transversal, norteado pela ferramenta STROBE. Amostra de 191 adultos de ambos os sexos. Realizadas medidas antropométricas, pressão arterial e análises bioquímicas. Aplicado teste estatístico no cruzamento da variável cor/raça/etnia com as variáveis investigadas. Resultados: os indígenas apresentaram melhores indicadores metabólicos e antropométricos relacionados às doenças cardiovasculares que os pardos/negros e brancos, assim como os Sateré-Mawé em relação aos rionegrinos. Conclusões: as principais diferenças foram: obesidade, dislipidemia, pré-hipertensão arterial sistêmica/hipertensão arterial sistêmica e circunferências aumentadas, com destaque de pior situação para os pardos/negros. Os achados indicam haver diferenças nos fatores de risco entre os grupos de raça/cor e etnia avaliados.


Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Ethnicity/statistics & numerical data , Heart Disease Risk Factors , Brazil/ethnology , Brazil/epidemiology , Cross-Sectional Studies , Population Groups/ethnology , Population Groups/statistics & numerical data , Hypertension/ethnology , Hypertension/epidemiology , Black People/ethnology , Black People/statistics & numerical data
2.
Rev. bras. enferm ; 72(1): 265-276, Jan.-Feb. 2019. tab, graf
Article in English | LILACS, BDENF | ID: biblio-990638

ABSTRACT

ABSTRACT Objective: to analyze the factors associated with childhood accidents at home according to the levels of the social determinants of health. Method: integrative review of the literature, with research in databases CINAHL, LILACS and PubMed, with the following main descriptors: child; social determinants of health; accidentes, home. We included 31 studies that related the social determinants of health and childhood accidents, in English, Portuguese and Spanish. Results: the proximal determinants identified were: age and sex of children, and ethnicity. Among the intermediate determinants of health, parental behavior, related to the supervision of an adult, prevailed. Parental employment and socioeconomic status were identified as distal determinants. Conclusion: the age and sex of the child, besides direct supervision, were the determinants most associated with accidents. The distal determinants should be better studied because their relation with the occurrence of domestic accidents has not been sufficiently clarified.


RESUMEN Objetivo: analizar los factores asociados a los accidentes domésticos en la infancia según los niveles de los determinantes sociales de la salud. Método: la revisión integradora de la literatura, con investigación en bases de datos CINAHL, LILACS y PubMed, con los siguientes descriptores principales: child; social determinants of health; accidentes, home. Se incluyeron 31 estudios relacionados con los determinantes sociales de la salud y accidentes domésticos en la infancia, en inglés, portugués y español. Resultados: los determinantes proximales identificados fueron: edad y sexo de los niños, y etnia. Entre los intermediarios, prevalecieron el comportamiento parental, relacionado a la supervisión de un adulto. El empleo de los padres y su situación socioeconómica fueron identificados como determinantes distales. Conclusión: la edad y el sexo de los niños, además de la supervisión directa, fueron los determinantes más asociados con los accidentes. Los determinantes distales deben ser más bien estudiados, pues su relación con la ocurrencia de los accidentes domésticos no se mostró suficientemente esclarecida.


RESUMO Objetivo: analisar os fatores associados aos acidentes domésticos na infância segundo os níveis dos determinantes sociais da saúde. Método: revisão integrativa da literatura, com pesquisa em bases de dados CINAHL, LILACS e PubMed, com os seguintes descritores principais: child; social determinants of health; accidentes, home. Foram incluídos 31 estudos que relacionaram os determinantes sociais da saúde e acidentes domésticos na infância, em inglês, português e espanhol. Resultados: os determinantes proximais identificados foram: idade e sexo das crianças, e etnia. Dentre os intermediários, prevaleceram o comportamento parental, relacionado à supervisão de um adulto. O emprego dos pais e a situação socioeconômica foram identificados como determinantes distais. Conclusão: a idade e o sexo da criança, além da supervisão direta, foram os determinantes mais associados aos acidentes. Os determinantes distais devem ser mais bem estudados, pois sua relação com a ocorrência dos acidentes domésticos não se mostrou suficientemente esclarecida.


Subject(s)
Humans , Accidents, Home , Social Determinants of Health/standards , Socioeconomic Factors , Parenting/ethnology , Population Groups/ethnology , Social Determinants of Health/ethnology
3.
MedicalExpress (São Paulo, Online) ; 4(5)Sept.-Oct. 2017. tab
Article in English | LILACS | ID: biblio-894362

ABSTRACT

OBJECTIVE: Ancestry Indicative Markers are used to define the allelic frequency of genes from different ethnic groups in populations of certain localities of interest, for analysis of population ancestry and estimation of ethnic mixture. This work aimed to evaluate the frequency of occurrence of the ancestry Indicative Markers SB-19.3, APO, AT3 / ID and PV-92 and to determine the existence of polymorphisms for these markers in the state of Mato Grosso. METHOD: The study aimed to estimate allelic and genotype frequencies, adherence to the Hardy-Weinberg equilibrium and genetic differentiation in the sample of 238 controls formed by HIV free individuals residing in twenty-six different municipalities in the state, collected at the Júlio Muller University Hospital and in a sample of 516 HIV-positive patients also residing in the state. RESULTS: The Hardy-Weinberg equilibrium test revealed an imbalance between the observed and expected proportions of Sb19.3 and APO loci in the control population. Applying the genetic differentiation test, control populations and HIV-positive patients differed for the four loci analyzed. CONCLUSION: The population of the state of Mato Grosso, Brazil proved to be very heterogeneous, confirming hypotheses about its history of colonization. Control populations and HIV-positive patients differed for the four loci analyzed.


OBJETIVO: Os Marcadores Indicativos de Ancestralidade (AIMs) são usados ​​para definir a frequência alélica de genes de diferentes grupos étnicos em populações de determinadas localidades de interesse, para análise de ascendência populacional e estimativa de mistura étnica. Este trabalho teve como objetivo avaliar a freqüência de AIMs (SB-19.3, APO, AT3 / ID e PV-92) e verificar a existência de polimorfismos para esses marcadores no estado de Mato Grosso. MÉTODO: O estudo teve como objetivo estimar as freqüências alélicas e genotípicas, a aderência ao equilíbrio de Hardy-Weinberg e a diferenciação genética na amostra de controles formada por indivíduos residentes em vinte e seis municípios do estado, coletados no Hospital Universitário Júlio Muller e em uma amostra de pacientes HIV positivos também residentes no estado. RESULTADOS: O teste de equilíbrio de Hardy-Weinberg revelou um desequilíbrio entre as proporções observadas e esperadas dos loci Sb19.3 e APO na população de controle. Aplicando o teste de diferenciação genética, a população controle e os pacientes HIV positivos diferenciaram-se para os quatro loci analisados. CONCLUSÃO: A população do estado de Mato Grosso mostrou-se heterogênea, confirmando hipóteses sobre sua história de colonização. A população controle e os pacientes HIV positivos diferenciaram-se para os quatro loci analisados.


Subject(s)
Humans , HIV Infections/ethnology , Black People , Polymorphism, Genetic , Genetic Testing/methods , Population Groups/ethnology
4.
whashington; s.n; 28 sept. 2017. 33 p.
Non-conventional in English, Spanish, Portuguese, French | LILACS | ID: biblio-1552014

ABSTRACT

En septiembre del 2017, los Estados Miembros de la OPS aprobaron por unanimidad la Política sobre etnicidad y salud en la 29.ª Conferencia Sanitaria Panamericana, 69.ª sesión del Comité Regional de la Organización Mundial de la Salud para las Américas. Con esta política, los Estados Miembros han acordado garantizar el enfoque intercultural en la salud y el tratamiento equitativo de los pueblos indígenas, los afrodescendientes, los romaníes y los miembros de otros grupos étnicos. Además, plantearon la necesidad de adoptar soluciones que sean inclusivas y promuevan la colaboración, a fin de cerrar las brechas en el acceso a los servicios de salud que afectan a estas poblaciones. Numerosos representantes de los pueblos indígenas, los afrodescendientes y los romaníes, los ministerios de salud y las organizaciones multilaterales participaron en la elaboración de esta política y se comprometieron a apoyar su aplicación. Con la aprobación de la Política sobre etnicidad y salud, la Región de las Américas se convierte en la primera región de la Organización Mundial de la Salud en reconocer la importancia de adoptar un enfoque intercultural para abordar las inequidades en la salud. Creo firmemente que esta política será una importante herramienta en los esfuerzos de toda la comunidad de la salud pública para avanzar hacia la cobertura universal de salud al reducir las desigualdades e inequidades en materia de salud de los distintos grupos étnicos.


Em setembro de 2017, na 29a Conferência Sanitária Pan-Americana (69a Sessão do Comitê Regional da Organização Mundial da Saúde para as Américas), os Estados Membros da OPAS aprovaram por unanimidade a Política sobre etnia e saúde. Com esta política, os Estados Membros concordaram em garantir o enfoque intercultural em saúde e a paridade de tratamento dos povos indígenas, dos afrodescendentes, dos roma e dos membros de outros grupos étnicos. Também abraçaram a busca por soluções colaborativas e inclusivas para contemplar as lacunas no acesso destas populações à saúde. Representantes dos povos indígenas, dos afrodescendentes, dos roma, dos ministérios da Saúde e de organizações multilaterais colaboraram na elaboração desta política e comprometeram-se a apoiar sua implementação. A Política sobre etnia e saúde torna a Região das Américas a primeira da Região da Organização Mundial da Saúde a reconhecer a importância de adotar o enfoque intercultural para enfrentar as iniquidades em saúde. Acredito firmemente que esta política servirá como uma importante ferramenta nos esforços de toda a comunidade da saúde pública de avançar rumo à saúde universal ao reduzir as desigualdades e iniquidades em saúde entre os grupos étnicos


En septembre 2017, à la 29e Conférence sanitaire panaméricaine (69e session du Comité régional de l'Organisation mondiale de la Santé pour les Amériques), les États Membres de l'OPS ont unanimement approuvé la Politique sur l'ethnicité et la santé. Par cette politique, les États Membres ont convenu de garantir une approche interculturelle de la santé et un traitement équitable des Autochtones, des Roms, des populations d'ascendance africaine, ainsi que des membres d'autres groupes ethniques. Ils ont également reconnu le besoin de solutions solidaires et collaboratives pour combler les lacunes d'accès à la santé de ces populations. Des représentants des Autochtones, des Roms et des populations d'ascendance africaine, des ministères de la Santé et des organisations multilatérales ont participé à l'élaboration de cette politique et se sont engagés à appuyer sa mise en œuvre. La Politique sur l'ethnicité et la santé fait de la Région des Amériques la première Région de l'Organisation mondiale de la Santé à reconnaître l'importance d'adopter une approche interculturelle pour répondre aux inégalités en matière de santé. Je crois profondément de cette politique constituera un outil essentiel dans les efforts déployés par l'ensemble de la communauté de la santé publique pour progresser vers la santé universelle en réduisant les inégalités et les iniquités de santé dans les groupes ethniques de la population.


In September 2017, at the 29th Pan American Sanitary Conference (69th Session of the Regional Committee of the World Health Organization for the Americas), PAHO Member States unanimously approved the Policy on Ethnicity and Health. With this policy, the Member States agreed to guarantee an intercultural approach to health and equitable treatment of indigenous peoples, Afro-descendants, Roma populations, and members of other ethnic groups. They also embraced the need for inclusive, collaborative solutions to address the gaps in access to health for these populations. Representatives from indigenous peoples, Afrodescendants, and Roma populations, ministries of health, and multilateral organizations participated in the development of this policy and committed to supporting its implementation. The Policy on Ethnicity and Health makes the Region of the Americas the first World Health Organization Region to acknowledge the importance of adopting an intercultural approach to address inequities in health.


Subject(s)
Humans , Pan American Sanitary Conference , Universal Health Coverage , Health Policy , Ethnicity , Rome/ethnology , Cultural Characteristics , Population Groups/ethnology , Black People/ethnology , Health of Indigenous Peoples , Social Determinants of Health/ethnology , eHealth Strategies
5.
Indian J Hum Genet ; 2013 Oct-Dec ;19 (4): 423-429
Article in English | IMSEAR | ID: sea-156608

ABSTRACT

BACKGROUND: Peroxisome proliferator activator receptor gamma (PPARγ) is a nuclear transcription factor regulating multiple genes involved in cell growth, differentiation, carbohydrate and lipid metabolism and energy production. Several genetic variations in the PPARγ gene have been identified to be associated with diabetes, obesity, dyslipidemia, insulin resistance, metabolic syndrome and coronary artery disease. The present study was designed to explore the distribution of two common single nucleotide polymorphisms of the PPARγ gene (C1431T and Pro12Ala) in an Iranian population. MATERIALS AND METHODS: Genotype frequencies for these two polymorphisms were compared for 160 healthy Iranian individuals with reports from other populations. The Genotyping was performed using real‑time polymerase chain reaction. RESULTS: The genotype distribution of the C1431T PPARγ polymorphism was 0.869 for the CC genotype, 0.119 for the CT genotype and 0.013 for uncommon TT genotype. Allelic frequencies were 0.93 for C and 0.07 for T allele respectively. For the Pro12Ala polymorphism of PPARγ gene, genotypic distributions and allelic frequencies were, 0.813 for CC, 0.181 for CG and 0.06 for GG and 0.903 for C and 0.097 for G respectively. Allelic and genotypic frequencies for both polymorphisms of PPARγ gene were in Hardy‑Weinberg equilibrium. CONCLUSIONS: Iran is a country with an ethnically diverse population and a comparison of allelic and genotypic frequencies of PPARγ C1431T and Pro12Ala polymorphisms between our population and others showed significant differences.


Subject(s)
Female , Gene Frequency/genetics , Humans , Iran/ethnology , Male , Polymorphism, Single Nucleotide/genetics , Population Groups/ethnology , Population Groups/genetics , PPAR gamma/analysis , PPAR gamma/genetics
6.
Indian J Hum Genet ; 2013 Oct-Dec ;19 (4): 392-396
Article in English | IMSEAR | ID: sea-156602

ABSTRACT

INTRODUCTION: Cytochrome P450 2D6 (CYP2D6) enzymes are involved in the metabolism of a large number of commonly prescribed drugs such as antidepressants and cardiovascular drugs. The CYP2D6 *3, *4 and *14 variants associated with the loss of enzyme function; CYP2D6 *10 and *17 variants with reduced enzyme function; and CYP2D6 *2 variant with no effect on enzyme function. Establishing the frequency of these variant alleles in Sri Lankan population would be useful for optimizing pharmacotherapy with CYP2D6‑substrate drugs. OBJECTIVE: The objective of this study was to determine the prevalence of CYP2D6 *2, *3, *4, *10, *14 and *17 variants in the main ethnic groups in the Sri Lankan population. MATERIALS AND METHODS: A total of 90 deoxyribonucleic acid (DNA) samples (30 each from Sinhalese, Tamils and Moors) were selected from a DNA resource at the Human Genetic Unit, Faculty of Medicine, University of Colombo. This collection had been made for population genetic studies from a random population based volunteers. Genotyping was performed using published polymerase chain reaction/ restriction fragment length polymorphism methods. RESULTS: The prevalence of the CYP2D6 variants in Sinhalese, Sri Lankan Tamils and Moors respectively were CYP2D6 *2: 37%, 41.6% and 37.9%; CYP2D6 *3: 60.3%, 45% and 30%; CYP2D6 *4: 21.6%, 6.6% and 8.3%; CYP2D6 *10: 40%, 35% and 44%. CYP2D6 *14 and *17 variants were not identified. CONCLUSION: CYP2D6 *3, *4 and *10 variants, which are associated with reduced or loss of CYP2D6 enzyme function were found in our population in significant frequencies. CYP2D6*4, which is reported to be a Caucasian variant was also found in all three ethnic groups.


Subject(s)
Asian People/ethnology , Asian People/genetics , Cytochrome P-450 CYP2D6/genetics , Gene Frequency/genetics , Genetic Variation/epidemiology , Genetic Variation/genetics , Humans , Male , Population Groups/ethnology , Population Groups/genetics , Sri Lanka/ethnology
7.
Medicina (B.Aires) ; 72(6): 461-466, dic. 2012. tab
Article in English | LILACS | ID: lil-662152

ABSTRACT

The mortality rate for cervical cancer (CC) in Northern Argentina is three times higher than the average for the country (7.8 deaths/100 000 women). We determined the prevalence and genotype distribution of human papillomavirus (HPV) in 227 sexually active women of the native Pilagá community in Formosa, Argentina. We also conducted an HPV-16 variant analysis and studied several community factors that might play a role in viral entry and infection. Endo- and exocervical samples were tested for HPV DNA with MY09/11-PCR or with GP5+/6+-PCR. HPV was detected in 46.7% of the samples and 21 different types were found; the most frequent being HPV-16 (19.4%), -6 and -18 (5.3%), -58 (3.5%) and -31 and -33 (3.1%). In relation to HPV-16 variants, 68.2% were European and 31.8% Asian-American. Among the cofactors analyzed only disposal of human excreta to the open air (P=0.01) was significantly associated with HPV infection. Our prevalence estimates clearly show that Pilagá women are highly exposed to or infected with high risk HPV types and therefore are at a high risk of developing precancerous lesions and eventually CC at the population level.


La tasa de mortalidad por cáncer cervical (CC) en la región norte de la Argentina es tres veces más alta que la media del país (7.8 muertes/100 000 mujeres). En el presente trabajo se determinó la prevalencia de infección por virus papiloma humano (VPH) y la distribución y frecuencia de los genotipos en 227 mujeres sexualmente activas de la etnia aborigen Pilagá (Formosa, Argentina). También se realizó un análisis de las variantes intratípicas de VPH-16 presentes en la comunidad y se analizaron diversos factores socioculturales que podrían tener algún rol destacado en la transmisión de la infección viral. Se estudiaron muestras de células endo-exocervicales mediante PCR basadas en los cebadores MY09/11 y GP5+/6+ con posterior restricción enzimática y/o hibridación dot-blot. La infección por VPH fue detectada en el 46.7% de las mujeres analizadas. Fueron identificados 21 genotipos, de los cuales los más frecuentes fueron HPV-16 (19.4%), -6 y -18 (5.3%), -58 (3.5%) y -31 y -33 (3.1%). Respecto al HPV-16, se encontraron 68.2% de variantes europeas y 31.8% de asiático-americanas. Entre los cofactores analizados, solo la disposición de excretas al aire libre estuvo significativamente asociada con la infección por VPH (P = 0.01). Los datos obtenidos reflejan que la comunidad Pilagá está altamente expuesta a las infecciones por genotipos de alto riesgo de VPH, lo cual puede estar asociado a una alta incidencia de lesiones cervicales preneoplásicas y neoplásicas.


Subject(s)
Adolescent , Adult , Aged , Female , Humans , Middle Aged , Young Adult , Cervix Uteri/virology , DNA, Viral/isolation & purification , Papillomaviridae/genetics , Papillomavirus Infections/epidemiology , Precancerous Conditions/virology , Uterine Cervical Neoplasms/genetics , Argentina/epidemiology , Argentina/ethnology , Genotype , Papanicolaou Test , Prevalence , Papillomavirus Infections/genetics , Population Groups/ethnology , Precancerous Conditions/pathology , Risk Factors , Socioeconomic Factors , Uterine Cervical Neoplasms/prevention & control
8.
Rev. cuba. med ; 50(4): 348-358, oct.-dic. 2011.
Article in Spanish | LILACS | ID: lil-615449

ABSTRACT

Introducción: El polimorfismo de inserción/deleción del gen de la enzima convertidora de angiotensina es uno de los marcadores de predisposición a enfermedades más estudiados del eje renina-angiotensina. Los hallazgos contradictorios de estudios de su asociación con diversas afecciones hacen necesario tipificar previamente las poblaciones de interés. Objetivos: Caracterizar el comportamiento de este polimorfismo en los principales grupos raciales cubanos: caucasoide y negroide. Métodos: Mediante un método basado en la reacción en cadena de la polimerasa se genotipificaron 93 muestras de sangre periférica obtenidas de adultos aparentemente sanos (49 caucasoides y 44 negroides). Se calcularon las frecuencias alélicas y genotípicas grupales. Resultados: Los genotipos ID y DD predominaron en los grupos caucasoide y negroide, respectivamente. La comparación de las frecuencias genotípicas entre ambos grupos evidenció diferencias significativas para el genotipo ID. El alelo D resultó el más frecuente en las 2 subpoblaciones estudiadas. Ambas se encuentran en equilibrio de Hardy-Weinberg para este polimorfismo. Las comparaciones de las distribuciones alélicas y genotípicas entre los grupos y poblaciones foráneas similares, no arrojaron diferencias significativas. Conclusiones: Los resultados permiten considerar los valores de frecuencias genotípicas y alélicas obtenidos como referencia para posteriores estudios de asociación con enfermedades en la población cubana e indican la necesidad de tener en cuenta las características particulares de este polimorfismo en cada grupo racial


Introduction: The insertion/deletion polymorphism of the angiotensin-converting enzyme is one of the more studied markers of predisposition to diseases of the renin-angiotensin axis. The contradictory findings from the studies of its association with diverse affection make necessary to typify previously the interesting population. Objectives: To characterize the behavior of this polymorphism in the main Cuban racial groups: Caucasoid and Negroid. Methods: By means of the polymerase chain reaction-based on method the genotyping was made in 93 samples of peripheral blood obtained from adults apparently healthy (49 Caucasoid and 44 Negroid). The allelic and genotypical-group frequencies were estimated. Results: The ID and DD genotypes were predominant in the Caucasoid and Negroid, respectively. The comparison of the genotype frequencies among both groups showed significant differences for the ID genotype. The D allele was more frequent in the two study subpopulations. Both are in balance of Hardy-Weinberg for this polymorphism. The comparisons of the allelic and genotypical distributions among similar foreign populations and groups had not significant differences. Conclusions: Results allows us to consider the values of genotypical and allelic frequencies obtained as reference for further studies on the association with diseases in Cuban population and suggest the need of to take into account the own features of this polymorphism in each racial group


Subject(s)
Population Groups/ethnology , Informed Consent , Peptidyl-Dipeptidase A/analysis , Polymorphism, Genetic/genetics , Polymerase Chain Reaction/methods , Cuba
9.
Colomb. med ; 40(4): 361-372, nov.-dic. 2009. ilus, tab
Article in Spanish | LILACS | ID: lil-573462

ABSTRACT

Introducción: El fenómeno de sub-estructura en las poblaciones ha tenido desde hace varios años un abordaje amplio, que se enfocó, entre otros, en la identificación y cuantificación de la mezcla étnica presente en estudios de mapeo asociativo, para comprobar la asociación de marcadores polimórficos en el desarrollo de enfermedades comunes complejas, como responsable de falsos positivos. No obstante el reconocimiento de este problema, no se tiene suficiente información genética en el contexto nacional ni local que permita determinar la posible diferenciación de subgrupos poblacionales en cada región en particular. Objetivo: Determinar la estructura genética en una muestra poblacional de la ciudad de Bucaramanga, a partir del análisis de 19 marcadores microsatélites autosómicos en distintos subgrupos poblacionales. Metodología: De la base de datos del Laboratorio de Genética Humana de la Universidad Industrial de Santander, se seleccionaron aleatoriamente 350 muestras de ADN, y se amplificaron 19 marcadores autosómicos Short Tandem Repeat mediante los "kits Powerplex® 16 y FFFL (Promega)".Resultados: En el análisis de equilibrio Hardy Weinberg, no se obtuvieron diferencias estadísticamente significativas en 18 de 19 marcadores Short Tandem Repeat autosómicos analizados en la población de Bucaramanga. El único marcador que mostró no estar en equilibrio Hardy Weinberg en la población de Bucaramanga fue el F13B (valor de significancia de p=0.00264, después de aplicar la corrección de Bonferroni). Discusión: Las poblaciones representadas en los seis estratos socioeconómicos mostraron alta diversidad genética intragrupos, que ratificó una alta variabilidad entre los individuos de la ciudad de Bucaramanga, acorde con el bajo valor de FST entre distintos grupos, determinado en el análisis molecular de varianza con base en frecuencias alélicas observadas para los 19 Short Tandem Repeat analizados.


Introduction: The phenomenon of substructure in the populations has been greatly analyzed for several years, and it has been focused especially on the identification and quantification of ethnic mixture present in studies of associative mapping to verify the association of polymorphic markers in the development of complex and common diseases responsible for false positives. Nevertheless, despite the recognition of this issue, there is insufficient genetic information within the national or local contexts that allow assessing the possible differentiation of population sub-groups in each particular region. Objective: To determine the genetic structure in the city of Bucaramanga through the analysis of 19 autosomal microsatellite markers in different subgroups of the population. Methodology: A total of 350 DNA samples were randomly selected from the database of the Human Genetic Laboratory at Universidad Industrial de Santander by using Epi Info version 6.04 2001. Also, 19 Short Tandem Repeat markers were amplified using "kits Powerplex® 16 and FFFL (Promega)". Results: In the Hardy Weinberg equilibrium analysis (100 steps in Markov chain and 1000 dememorization steps), no statistically significant differences in 18 out of the 19 analyzed STRs markers in the population of Bucaramanga were obtained. A unique marker that proved not present in HWE in the population of Bucaramanga was the F13B (for a significance value of p=0.00264, after applying the Bonferroni correction). Discussion: The populations represented in the six socioeconomic levels presented high genetic diversity intragroups, which ratified the high variability among the individuals in this city according to the low value of FST for different groups, determined via the molecular analysis of variance based on the allelic frequencies observed for the 19 analyzed Short Tandem Repeats.


Subject(s)
Genetic Association Studies , Population Groups/ethnology , Population Groups/genetics , Population Studies in Public Health , Population/genetics
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