ABSTRACT
Colombia is a country with great geographic heterogeneity and marked regional differences in pre-Columbian native population density and in the extent of past African and European immigration. As a result, Colombia has one of the most diverse populations in Latin America. Here we evaluated ancestry in over 1,700 individuals from 24 Colombian populations using biparental (autosomal and X-Chromosome), maternal (mtDNA), and paternal (Y-chromosome) markers. Autosomal ancestry varies markedly both within and between regions, confirming the great genetic diversity of the Colombian population. The X-chromosome, mtDNA, and Y-chromosome data indicate that there is a pattern across regions indicative of admixture involving predominantly Native American women and European and African men.
Subject(s)
Genetic Markers/genetics , Genetics, Population/methods , Racial Groups/genetics , Chromosomes, Human, X/genetics , Chromosomes, Human, Y/genetics , Colombia , DNA, Mitochondrial/genetics , Female , Geography , Haplotypes/genetics , Humans , Male , Sex FactorsABSTRACT
INTRODUCTION: Genetic studies of Trypanosoma cruzi have tried to establish relations between genetic variants and their biological characteristics, such as clinical manifestations, host or geographic origin. However, much controversy exists on the associations between the commonly used DNA markers with group, clinical characteristics and disease epidemiology. OBJECTIVE: In this study determined the variability of the genes that code for the proteins trypanothione reductase and cruzipain, both involved in the infection and survival of the parasite in the mammalian host, was studied and the association between genetic polymorphism and biological and geographic sources in Colombian T. cruzi strains was examined. MATERIALS AND METHODS: The genotypes for each of six SNPs (single nucleotide polymorphisms) for trypanothione reductase and eight SNPs for cruzipain genes were identified by polymerase chain reaction-restriction fragment length polymorphism in 36 T. cruzi Colombian stocks from several regions and biological origins. RESULTS: Three genotypes were identified for trypanothione reductase with Acy I and Hae III enzymes and six genotypes for cruzipain with the Rsa I, Ban I and Bsu 361 enzymes. CONCLUSIONS: For trypanothione reductase, an association was not established with biological or geographical origin; however, alleles at positions 102 and 210 allowed discrimination with groups I and II. For cruzipain, specific genotypes were associated with group, biological and geographic origin. The usefulness of molecular markers on these genes was demonstrated for the determination and differentiation of genetic varieties in T. cruzi.
Subject(s)
Cysteine Endopeptidases/genetics , NADH, NADPH Oxidoreductases/genetics , Polymorphism, Single Nucleotide , Trypanosoma cruzi/enzymology , Animals , Antigens, Protozoan/genetics , Biomarkers/metabolism , Chagas Disease/epidemiology , Chagas Disease/physiopathology , Colombia/epidemiology , Genotype , Humans , Molecular Sequence Data , Polymorphism, Restriction Fragment Length , Protozoan Proteins , Trypanosoma cruzi/genetics , Trypanosoma cruzi/pathogenicityABSTRACT
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.
Subject(s)
Hypertension/genetics , Adult , Angiotensinogen/genetics , Blood Pressure/genetics , Calmodulin-Binding Proteins/genetics , Colombia , Cyclooxygenase 2/genetics , Female , Humans , Male , Middle Aged , Peptidyl-Dipeptidase A/genetics , Plasma Membrane Calcium-Transporting ATPases/genetics , Receptor, Angiotensin, Type 1/genetics , Receptors, Adrenergic, beta-2/genetics , Receptors, Dopamine D1/genetics , Receptors, Thromboxane A2, Prostaglandin H2/genetics , Risk FactorsABSTRACT
Estudiamos la prevalencia de los factores de riesgo cardiovascular en 488 individuos mayores de 14 años, en el resguardo indígena Karmata Rúa de Cristianía. Se encontraron las siguientes frecuencias: hipertensión arterial (HTA) 18,1%; antecedente personal de diabetes mellitus 3,3%; glucemia mayor de 126 mg/dL 0,7%; hábito de fumar 15%; sobrepeso 40,2%; obesidad 8,0%; hipercolesterolemia 21,4%; hipertrigliceridemia 33,3% y dislipidemia 56,2%. El índice de masa corporal y los valores de colesterol total, glucemia, perímetro de la cintura, índice cintura/ cadera y presión arterial sistólica y diastólica presentaron correlación positiva y significativa con la edad. El grado de escolaridad mostró correlación negativa con el perímetro de la cintura, el índice cintura/cadera, la glucemia y la presión arterial. Al comparar con poblaciones indígenas y no indígenas de Colombia y de otros países, se encontró una prevalencia entre tres y cuatro veces menor de diabetes mellitus; en la población estudiada hay menos HTA aunque existe tendencia al sobrepeso. No se encontraron diferencias significativas en otros factores de riesgo; todos ellos fueron más frecuentes en mujeres, en personas de escolaridad baja y en individuos mayores. Los factores que contribuyen a estas diferencias son genéticos (homogeneidad étnica) y ambientales, como la mayor actividad física de los hombres, la dieta y la estructura demográfica.
Prevalence of cardiovascular risk factors was studied in 488 individuals over the age of 14 years in the Karmata Rua indigenous population of Cristianía, Colombia. The following rates were found: arterial hypertension 18.1%, family history of diabetes mellitus 3.3%, serum glucose over 126 mg/dL 0.7%, smoking habit 15%, overweight 40.2%, obesity 8.0%, hypercholesterolemia 21.4%, hypertriglyceridemia 33.3% and dyslipidemia 56.2%. Values of body mass index, total cholesterol, glucose, waist circumference, waist/hip index, systolic and diastolic blood pressure showed a positive and significant correlation with age. Higher level of education showed negative correlation with waist circumference, the waist/hip index, blood sugar and blood pressure. In comparison with other indigenous and non-indigenous communities of Colombia and other countries, prevalence of diabetes mellitus was between three and four times lower in the studied population; prevalence or high blood pressure was also lower despite a tendency to overweight. For other risk factors no significant differences were found, but they were more common in women, in people with low level of schooling and in elder individuals. Probably this difference is caused by genetic and environmental factors, such as increased physical activity in men, diet, and population structure.
Estudamos a prevalência dos fatores de risco cardiovascular em 488 indivíduos maiores de 14 anos, no resguardo indígena Karmata Rúa de Cristianía. Encontraram- se as seguintes frequências: hipertensão arterial (HTA) 18,1%; antecedente pessoal de diabete mellitus 3,3%; glicemia maior de 126 mg/DL 0,7%; hábito de fumar 15%; sobrepeso 40,2%; obesidade 8,0%; hipercolesterolemia 21,4%; hipertrigliceridemia 33,3% e dislipidemia 56,2%. O índice de massa corporal e os valores de colesterol total, glicemia, perímetro da cintura, índice cintura/quadril e pressão arterial sistólica e diastólica apresentaram correlação positiva e significativa com a idade. O grau de escolaridade mostrou correlação negativa com o perímetro da cintura, o índice cintura/quadril, a glicemia e a pressão arterial. Ao comparar com populações indígenas e não indígenas da Colômbia e de outros países, encontrou-se uma prevalência entre três e quatro vezes menor de diabetes mellitus; na população estudada há menos HTA ainda que existe tendência ao sobrepeso. Não se encontraram diferenças significativas em outros FR; todos eles foram mais frequentes em mulheres, em pessoas de escolaridade baixa e em indivíduos maiores. Os fatores que contribuem a estas diferenças são genéticos (homogeneidade étnica) e ambientais, como a maior atividade física dos homens, a dieta e a estrutura demográfica.
Subject(s)
Adult , Cardiovascular Diseases , Risk FactorsABSTRACT
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.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Hypertension/genetics , Angiotensinogen/genetics , Blood Pressure/genetics , Calmodulin-Binding Proteins/genetics , Colombia , /genetics , Peptidyl-Dipeptidase A/genetics , Plasma Membrane Calcium-Transporting ATPases/genetics , Receptor, Angiotensin, Type 1/genetics , /genetics , Receptors, Dopamine D1/genetics , /genetics , Risk FactorsABSTRACT
Introducción. Los estudios genéticos en Trypanosoma cruzi han buscado establecer asociaciones de variantes genéticas del parásito con manifestaciones clínicas de la enfermedad, origen biológico y geográfico de los aislamientos; sin embargo, los resultados de asociación con los marcadores comúnmente usados en estos estudios han generado mucha controversia, principalmente en la asociación de grupos con características clínicas y epidemiológicas de la enfermedad.Objetivo. Se planteó determinar la variabilidad de genes que codifican para las proteínas tripanotión reductasa y cruzipaína , involucradas en mecanismos de infección y supervivencia del parásito en el hospedador mamífero, y probar la asociación de variantes génicas con origen biológico y geográfico de cepas colombianas de T. cruzi. Materiales y métodos. Se tipificaron por reacción en cadena de la polimerasa- polimorfismo de longitud del fragmento de restricción seis SNPs (Single Nucleotide Polymorphisms) en tripanotión reductasa y ocho SNPs en cruzipaína en 36 cepas colombianas de T. cruzi de diferentes regiones y origen biológico.Resultados. Con las enzimas Acy I y Hae III se determinaron tres genotipos para tripanotión reductasa. Para cruzipaína se identificaron seis genotipos con las enzimas Rsa I, Ban I y Bsu 36I.Conclusiones. Para tripanotión reductasa no fue posible establecer una asociación con el origen biológico o geográfico; sin embargo los alelos producidos en las posiciones 102 y 210, permitieron discriminar los grupos tradicionales I y II. Con los genotipos obtenidos para cruzipaína se establecieron relaciones a estos grupos, origen biológico y geográfico. Los resultados sugieren la utilidad de estos genes como marcadores moleculares para determinar y diferenciar variedades genéticas en T. cruzi.
Introduction. Genetic studies of Trypanosoma cruzi have tried to establish relations between genetic variants and their biological characteristics, such as clinical manifestations, host or geographic origin. However, much controversy exists on the associations between the commonly used DNA markers with group, clinical characteristics and disease epidemiology. Objective. In this study determined the variability of the genes that code for the proteins trypanothione reductase and cruzipain, both involved in the infection and survival of the parasite in the mammalian host, was studied and the association between genetic polymorphism and biological and geographic sources in Colombian T. cruzi strains was examined. Materials and methods. The genotypes for each of six SNPs (single nucleotide polymorphisms) for trypanothione reductase and eight SNPs for cruzipain genes were identified by polymerase chain reaction-restriction fragment length polymorphism.in 36 T. cruzi Colombian stocks from several regions and biological origins. Results. Three genotypes were identified for trypanothione reductase with Acy I and Hae III enzymes and six genotypes for cruzipain with the Rsa I, Ban I and Bsu 36I enzymes. Conclusions. For trypanothione reductase ,an association was not established with biological or geographical origin; however, alleles at positions 102 and 210 allowed discrimination with groups I and II. For cruzipain, specific genotypes were associated with group, biological and geographic origin. The usefulness of molecular markers on these genes was demonstrated for the determination and differentiation of genetic varieties in T. cruzi.