ABSTRACT
Insulin resistance and defects in other related glycemic traits are common findings in the context of Metabolic Syndrome. Although genetic factors are clearly implied in susceptibility, and some gene variants have been identified mainly in populations of European ancestry, little is known about this aspect in admixed populations. The association of insulin resistance, ß-cell function, fasting insulin and glucose levels with 48 gene variants, previously related to metabolic syndrome components, and with the ancestral genetic composition, estimated on 50 ancestry informative markers, was evaluated in 417 individuals from the Colombian admixed population. The Native American genetic ancestry was associated with a low ß-cell function (odds ratio (OR) of 1.73 and 95% confidence interval (95% CI) of 1.07-2.81, pâ¯=â¯0.026). Significant genotypic associations were obtained (q-valueâ¯<â¯0.05) for gene variants in ACE (rs4340; OR (95% CI): 2.79 (1.58-4.91), insulin resistance; mean difference (95% CI): 0.273 (0.141; 0.406), fasting insulin), ADIPOR2 (rs11061971; OR (95% CI): 0.14 (0.04-0.48), low ß-cell function), MTNR1B (rs10830963; mean difference (95% CI): 0.032 (0.013; 0.051), fasting glucose) and GCK (rs4607517; mean difference (95% CI): 0.038 (0.020;0.056) and rs1799884; mean difference (95% CI): 0.027 (0.013-0.041), fasting glucose). Also the well-known gene variants rs7903146 in TCF7L2, and rs17817449 in FTO, were nominally associated with hyperglycemia (rs7903146), as well as with higher fasting insulin levels (rs17817449). Our findings indicate that gene variants in ACE, ADIPOR2, MTNR1B, GCK, TCF7L2 and FTO, are associated with glycemic traits in the admixed Colombian population, while a higher Native American genetic component is related to lower ß-cell function.
Subject(s)
Genetic Variation/genetics , Glycemic Index/genetics , Indians, North American/genetics , Proteins/genetics , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics , Colombia , Female , Genotype , Germinal Center Kinases , Humans , Insulin Resistance/genetics , Male , Peptidyl-Dipeptidase A/genetics , Protein Serine-Threonine Kinases/genetics , Receptor, Melatonin, MT2/genetics , Receptors, Adiponectin/genetics , Transcription Factor 7-Like 2 Protein/genetics , Young AdultABSTRACT
BACKGROUND AND OBJECTIVE: Insulin resistance (IR) is a condition favored by metabolic and endocrine changes experienced by adipose tissue in the context of obesity. The prevalence and the presentation of both IR and obesity vary among the populations, and may be affected by ancestral genetic composition among other factors. The aim of this study was to compare the presence of IR and obesity in Amerindians of the Embera-Chamí ethnicity and Colombian mestizo population. PATIENTS AND METHODS: A sample of 630 individuals, 471 mestizos and 159 Amerindians of the Embera-Chamí ethnicity, from the general population of Colombia were studied. For each participant, anthropometric and biochemical measurements, as well as blood pressure and the Homeostatic Model Assessment (HOMA) of IR and ß-cell function (%B) were recorded. These values were compared between the two populations. RESULTS: While prevalence of central obesity was similar in both populations (48.7% and 42.6% in the mestizo and Embera groups respectively; p=0.148), body mass index (BMI) values suggested a higher prevalence of overweight in the Embera than in mestizo population (43.4% Embera, 31.8% mestizo; p=0.027). Despite the similarities in the prevalence of HOMA-IR and HOMA-%B status between both populations, the Embera population had a significantly greater pancreatic ß-cell function, higher insulin levels, and better glucose control, across BMI and central obesity categories, than the mestizo population. CONCLUSION: There are differences in aspects related to energy metabolism between the samples of the mestizo and Amerindian populations analyzed.
Subject(s)
Adiposity/ethnology , Ethnicity/statistics & numerical data , Indians, South American/statistics & numerical data , Insulin Resistance/ethnology , Adolescent , Adult , Anthropometry , Blood Glucose/analysis , Blood Pressure , Child , Colombia/epidemiology , Cross-Sectional Studies , Energy Metabolism , Humans , Insulin/blood , Insulin-Secreting Cells/physiology , Marriage , Metabolic Syndrome/ethnology , Middle Aged , Obesity, Abdominal/ethnology , White People , Young AdultABSTRACT
Background and objective: Insulin resistance (IR) is a condition favored by metabolic and endocrine changes experienced by adipose tissue in the context of obesity. The prevalence and the presentation of both IR and obesity vary among the populations, and may be affected by ancestral genetic composition among other factors. The aim of this study was to compare the presence of IR and obesity in Amerindians of the Embera-Chamí ethnicity and Colombian mestizo population. Patients and methods: A sample of 630 individuals, 471 mestizos and 159 Amerindians of the Embera-Chamí ethnicity, from the general population of Colombia were studied. For each participant, anthropometric and biochemical measurements, as well as blood pressure and the Homeostatic Model Assessment (HOMA) of IR and β-cell function (%B) were recorded. These values were compared between the two populations. Results: While prevalence of central obesity was similar in both populations (48.7% and 42.6% in the mestizo and Embera groups respectively; p=0.148), body mass index (BMI) values suggested a higher prevalence of overweight in the Embera than in mestizo population (43.4% Embera, 31.8% mestizo; p=0.027). Despite the similarities in the prevalence of HOMA-IR and HOMA-%B status between both populations, the Embera population had a significantly greater pancreatic β-cell function, higher insulin levels, and better glucose control, across BMI and central obesity categories, than the mestizo population. Conclusion: There are differences in aspects related to energy metabolism between the samples of the mestizo and Amerindian populations analyzed (AU)
Antecedentes y objetivo: La resistencia a la insulina (RI) es una condición favorecida por las alteraciones metabólicas y endocrinológicas experimentadas por el tejido adiposo en el contexto de obesidad. Tanto la prevalencia como la presentación de RI y obesidad varían entre las poblaciones y puede ser afectada, entre otros factores, por la composición genética ancestral. El objetivo de este estudio fue comparar la presentación tanto de RI como de obesidad entre amerindios de la etnia embera-chamí y población mestiza colombiana. Pacientes y métodos: Se estudió una muestra de 630 individuos de la población general mestiza colombiana (471 individuos) y de amerindios de la etnia embera-chamí (159 individuos). Para todos los participantes se registraron tanto medidas antropométricas, bioquímicas así como de presión arterial y el índice homeostatic model assessment (HOMA) para la RI y función de la célula β, valores que fueron comparados entre las poblaciones. Resultados: Mientras que ambas poblaciones mostraron una prevalencia de obesidad central similar (48,7% en mestizos, 42,6% en embera; p=0,148), los embera presentaron mayor exceso de peso de acuerdo al índice de masa corporal que los mestizos (43,4% en embera, 31,8% en mestizos; p=0,027). A pesar de las similitudes en la prevalencia de HOMA2-RI y HOMA2- %B entre ambas poblaciones, los embera presentan una función significativamente mayor de las células β del páncreas, niveles de insulina comparativamente mayores y un mejor control glucémico que los mestizos. Conclusión: Existen diferencias en aspectos del metabolismo energético entre las muestras de población mestiza y amerindia analizadas (AU)
Subject(s)
Humans , Male , Female , Child , Adolescent , Young Adult , Adult , Insulin Resistance , Obesity/complications , Anthropometry/methods , Adiposity , Indians, South American/classification , Indians, South American/statistics & numerical data , Body Mass IndexABSTRACT
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
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.
