Association of variants in IL1B, TLR9, TREM1, IL10RA, and CD3G and Native American ancestry on malaria susceptibility in Colombian populations.

Host genetics is an influencing factor in the manifestation of infectious diseases. In this study, the association of mild malaria with 28 variants in 16 genes previously reported in other populations and/or close to ancestry-informative markers (AIMs) selected was evaluated in an admixed 736 Colombian population sample. Additionally, the effect of genetic ancestry on phenotype expression was explored. For this purpose, the ancestral genetic composition of Turbo and El Bagre was determined. A higher Native American ancestry trend was found in the population with lower malaria susceptibility [odds ratio (OR) = 0.416, 95% confidence interval (95% CI) = 0.234-0.740, P = 0.003]. Three AIMs presented significant associations with the disease phenotype (MID1752, MID921, and MID1586). The first two were associated with greater malaria susceptibility (D/D, OR = 2.23, 95% CI = 1.06-4.69, P = 0.032 and I/D-I/I, OR = 2.14, 95% CI = 1.18-3.87, P = 0.011, respectively), and the latter has a protective effect on the appearance of malaria (I/I, OR = 0.18, 95% CI = 0.08-0.40, P < 0.0001). After adjustment by age, sex, municipality, and genetic ancestry, genotype association analysis showed evidence of association with malaria susceptibility for variants in or near IL1B, TLR9, TREM1, IL10RA, and CD3G genes: rs1143629-IL1B (G/A-A/A, OR = 0.41, 95% CI = 0.21-0.78, P = 0.0051), rs352139-TLR9 (T/T, OR = 0.28, 95% CI = 0.11-0.72, P = 0.0053), rs352140-TLR9 (C/C, OR = 0.41, 95% CI = 0.20-0.87, P = 0.019), rs2234237-TREM1 (T/A-A/A, OR = 0.43, 95% CI = 0.23-0.79, P = 0.0056), rs4252246-IL10RA (C/A-A/A, OR = 2.11, 95% CI = 1.18-3.75, P = 0.01), and rs1561966-CD3G (A/A, OR = 0.20, 95% CI = 0.06-0.69, P = 0.0058). The results showed the participation of genes involved in immunological processes and suggested an effect of ancestral genetic composition over the traits analyzed. Compared to the paisa population (Antioquia), Turbo and El Bagre showed a strong decrease in European ancestry and an increase in African and Native American ancestries. Also, a novel association of two single nucleotide polymorphisms with malaria susceptibility was identified in this study.

Association of Native American ancestry and common variants in ACE, ADIPOR2, MTNR1B, GCK, TCF7L2 and FTO genes with glycemic traits in Colombian population.

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, p = 0.026). Significant genotypic associations were obtained (q-value < 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.

Epidemiología de los desórdenes venosos crónicos y factores asociados en amerindios nativos embera-chamí, Antioquia / Epidemiology of chronic venous disorders and associated factors in embera-chami native amerindians, Antioquia / Epidemiologia das doenças venosas crônicas e fatores associados em ameríndios nativos embera-chamí, Antioquia

Resumen Objetivo: Analizar la prevalencia de los desórdenes venosos crónicos (dvc) en los embera-chamí de Cristianía (Karmata Rua), en el suroeste de Antioquia, y conocer sus posibles factores asociados (fa). Metodología: Estudio de corte de una muestra aleatoria de 488 sujetos. El diagnóstico se realizó mediante ecoduplex venoso. Se recolectó información sobre fa sociodemográficos, comportamentales y antropométricos. Los fa más relevantes se seleccionaron por regresión logística binaria múltiple. Resultados: La prevalencia de várices fue del 27,5 % y la de insuficiencia venosa crónica (ivc) del 0,8 %. Hubo compromiso de segmentos anatómicos superficiales en el 34,8 % de los individuos. La edad fue el fa más importante, con Odds Ratio (or) entre 3,33 y 6,30 según el tipo de dvc (excepto C1). El sexo femenino, la paridad, la grasa en el muslo y pierna y la talla alta se asociaron a telangiectasias. La edad, la grasa abdominal y la forma de la pierna fueron fa de várices. A las venas superficiales, en ambos sexos, se asociaron la edad y la grasa abdominal y, en mujeres, también los antecedentes familiares de várices. A las profundas y perforantes se asociaron la edad y la depleción de grasa periférica. Conclusiones: El patrón de baja prevalencia de los dvc en embera-chamí puede ser consecuencia de los estilos de vida relacionados con la actividad física diaria y las diferencias genéticas compartidas con amerindios. En los programas de atención en salud diferencial deberían considerarse los desórdenes profundos y perforantes respecto a mestizos.

Abstract Objective: To analyze the prevalence of chronic venous disorders (CVD) in the embera-chamí from Cristianía (Karmata Rua), in the southwest of Antioquia, and to study possible associated factors (AF). Methodology: A cross sectional study of a random sample of 488 subjects. The diagnosis was performed through Doppler ultrasonography. Information about sociodemographic, behavioral and anthropometric AFs was collected. The most relevant AFs were selected through multiple binary logistic regression. Results: The prevalence of varicose veins was 27.5% and that of chronic venous insufficiency (cvi) was 0.8%. Superficial anatomical segments were compromised in 34.8% of individuals. Age was the most important AF, with an Odds Ratio (OR) between 3.33 and 6.30 according to the type of cvd. Being a female, parity, fat in the thigh/leg and large size were associated with telangiectasias. Age, abdominal fat and leg shape were AF of varicose veins. Superficial veins in both sexes were associated with age and abdominal fat and in women, also with a family background of varicose veins. Deep and perforator veins were associated with age and peripheral fat depletion. Conclusions: The low prevalence pattern of CVDs in embera-chamí may be a consequence of lifestyles involving daily physical activity and genetic differences shared with Amerindians. Deep and perforating disorders should be considered in differential health care programs in relation to mestizos.

Resumo Objetivo: Analisar a prevalência de doenças venosas crônicas (dvc) na Embera-Chami Christiania (KarmataRua), no sudoeste do estado de Antioquia, e conhecer seus fatores associados (AF). Metodologia: Um estudo de coorte de uma amostra aleatória de 488 indivíduos. O diagnóstico foi feito por ecoduplex venoso. Informações sobre FA sócio demográficas, comportamentais e antropométricas foram coletadas. Os FAs mais relevantes foram selecionados para múltipla regressão logística binária. Resultados: A prevalência de varizes foi de 27,5% e a de insuficiência venosa crônica (ivc) foi de 0,8%. Houve comprometimento dos segmentos anatômicos superficiais em 34,8% dos indivíduos. A idade foi a FA mais importante, com Odds Ratio (OR) entre 3,33 e 6,30 de acordo com o tipo de dvc. Sexo feminino, paridade, gordura na coxa e perna e altura foram associados a telangiectasias. Idade, gordura abdominal e formato de perna foram FA de varizes. Nas veias superficiais, em ambos os sexos, idade e gordura abdominal estavam associadas e, nas mulheres, também a história familiar de varizes. Às profundas e perfurantes foram associadas a idade e depleção de gordura periférica. Conclusões: O padrão de baixa prevalência de DVC em embera-chamí pode ser uma consequência de estilos de vida relacionados à atividade física diária e diferenças genéticas compartilhadas com ameríndios. Em programas diferenciais de atenção à saúde, distúrbios profundos e perfurantes devem ser considerados em relação aos mestiços.

Prevalencia de factores de riesgo cardiovascular en indígenas embera-chamí de Cristianía (Jardín), Antioquia / Prevalence of cardiovascular risk factors in the embera-chami indigenous population of Cristianía (Jardín) Antioquia, Colombia / Prevalência de fatores de risco cardiovascular em indígenas embera-chamí de Cristianía (Jardim), Antioquia

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.