Interaction analysis of FTO and IRX3 genes with obesity and related metabolic disorders in an admixed Latin American population: a possible risk increases of body weight excess.

Background: Fat Mass and Obesity-related (FTO) has been one of the genes consistently related to common obesity. Single nucleotide polymorphisms (SNPs) in FTO have been linked with the IRX3 gene. Aim: This study was designed by testing the hypothesis that: i) common SNPs in FTO and IRX3 are associated with obesity and related disorders; ii) there is significant linkage disequilibrium between both genes. Methods: A cross-sectional study was carried out on the Colombian Caribbean Coast. Anthropometric and biochemical variables were measured, and obesity and metabolic disorders were diagnosed. Four SNPs were genotyped: 3 at FTO locus (rs17817449, rs8050136, rs9939609) and one at IRX3 locus (rs3751723). LD between these SNPs was estimated. A logistic regression model was applied to estimate associations. Results: A total of 792 subjects were included. FTO and IRX3 were not in LD (D'≤ 0.03; R2≤ 0.03). TT genotype (rs9939609) was found to be associated with waist circumference (p= 0.04; adj-p= 0.01), and IRX3 SNP with Body Weight Excess (BWE) (OR= 1.06, adj-p= 0.03). One FTO-IRX3 haplotype was associated with BWE (G-A-A-T, rs17817449-rs8050136-rs9939609-rs3751723; OR= 0.67, p= 0.04). The statistical significance of these relations continued after admixture adjustment for a three-hybrid population (p= 0.03). Conclusions: FTO was related to waist circumference, and IRX3 was associated with BWE in Latin American adults. This relation remained statistically significant after an adjustment for sex, age, and genetic ancestry was performed. Despite that these genes were not in LD, findings of a haplotype involving FTO-IRX3 suggest a gene-gene interaction associated with an increased risk of BWE.

Introducción: FTO (Fat Mass and Obesity-related) se ha relacionado de manera consistente con la obesidad. Recientemente, Polimorfismos de Nucleótido Único (SNP) en este gen se han relacionado con el gen IRX3. Objetivo: Probar la hipótesis de que: i) SNPs en FTO e IRX3 están asociados con la obesidad y trastornos relacionados; ii) existe desequilibrio de ligamiento (LD) significativo entre ambos genes. Métodos: se realizó un estudio transversal en la costa caribe colombiana. Se valoraron variables antropométricas y bioquímicas, la obesidad y trastornos metabólicos. Se genotipificaron 4 SNPs: 3 en FTO (rs17817449, rs8050136, rs9939609) y uno en IRX3 (rs3751723). Se estimó el LD entre estos SNPs. Se aplicó un modelo de regresión logística para estimar asociaciones. Resultados: Se incluyeron 792 sujetos. FTO e IRX3 no se encontraron en LD (D' ≤0.03; R2 ≤0.03). El genotipo TT (rs9939609) se encontró asociado con la circunferencia de la cintura (p= 0.04; adj-p= 0.01), y el SNP IRX3 con el Exceso de Peso (EP) (OR= 1.06, adj-p= 0.03). Se encontró un haplotipo FTO-IRX3 asociado con EP (G-A-A-T, rs17817449-rs8050136-rs9939609-rs3751723; OR= 0.67, p= 0.04). Esta asociación persistió después del ajuste para una población mixta (p= 0.03). Conclusiones: FTO se encontró asociado con la circunferencia de la cintura e IRX3 con EP en adultos latinoamericanos. Estas asociaciones persistieron tras el ajuste por sexo, edad y ascendencia genética. Aunque estos genes no estaban en LD, los hallazgos de un haplotipo entre FTO-IRX3 sugieren una interacción gen-gen asociada con un mayor riesgo de EP.

Interaction analysis of FTO and IRX3 genes with obesity and related metabolic disorders in an admixed Latin American population: a possible risk increases of body weight excess / Análisis de la interacción entre los genes FTO e IRX3 con obesidad y desórdenes metabólicos relacionados en una población mixta de América Latina: un posible aumento del riesgo de exceso de peso

Abstract Background: Fat Mass and Obesity-related (FTO) has been one of the genes consistently related to common obesity. Single nucleotide polymorphisms (SNPs) in FTO have been linked with the IRX3 gene. Aim: This study was designed by testing the hypothesis that: i) common SNPs in FTO and IRX3 are associated with obesity and related disorders; ii) there is significant linkage disequilibrium between both genes. Methods: A cross-sectional study was carried out on the Colombian Caribbean Coast. Anthropometric and biochemical variables were measured, and obesity and metabolic disorders were diagnosed. Four SNPs were genotyped: 3 at FTO locus (rs17817449, rs8050136, rs9939609) and one at IRX3 locus (rs3751723). LD between these SNPs was estimated. A logistic regression model was applied to estimate associations. Results: A total of 792 subjects were included. FTO and IRX3 were not in LD (D'≤ 0.03; R2≤ 0.03). TT genotype (rs9939609) was found to be associated with waist circumference (p= 0.04; adj-p= 0.01), and IRX3 SNP with Body Weight Excess (BWE) (OR= 1.06, adj-p= 0.03). One FTO-IRX3 haplotype was associated with BWE (G-A-A-T, rs17817449-rs8050136-rs9939609-rs3751723; OR= 0.67, p= 0.04). The statistical significance of these relations continued after admixture adjustment for a three-hybrid population (p= 0.03). Conclusions: FTO was related to waist circumference, and IRX3 was associated with BWE in Latin American adults. This relation remained statistically significant after an adjustment for sex, age, and genetic ancestry was performed. Despite that these genes were not in LD, findings of a haplotype involving FTO-IRX3 suggest a gene-gene interaction associated with an increased risk of BWE.

Resumen Introducción: FTO (Fat Mass and Obesity-related) se ha relacionado de manera consistente con la obesidad. Recientemente, Polimorfismos de Nucleótido Único (SNP) en este gen se han relacionado con el gen IRX3. Objetivo: Probar la hipótesis de que: i) SNPs en FTO e IRX3 están asociados con la obesidad y trastornos relacionados; ii) existe desequilibrio de ligamiento (LD) significativo entre ambos genes. Métodos: se realizó un estudio transversal en la costa caribe colombiana. Se valoraron variables antropométricas y bioquímicas, la obesidad y trastornos metabólicos. Se genotipificaron 4 SNPs: 3 en FTO (rs17817449, rs8050136, rs9939609) y uno en IRX3 (rs3751723). Se estimó el LD entre estos SNPs. Se aplicó un modelo de regresión logística para estimar asociaciones. Resultados: Se incluyeron 792 sujetos. FTO e IRX3 no se encontraron en LD (D' ≤0.03; R2 ≤0.03). El genotipo TT (rs9939609) se encontró asociado con la circunferencia de la cintura (p= 0.04; adj-p= 0.01), y el SNP IRX3 con el Exceso de Peso (EP) (OR= 1.06, adj-p= 0.03). Se encontró un haplotipo FTO-IRX3 asociado con EP (G-A-A-T, rs17817449-rs8050136-rs9939609-rs3751723; OR= 0.67, p= 0.04). Esta asociación persistió después del ajuste para una población mixta (p= 0.03). Conclusiones: FTO se encontró asociado con la circunferencia de la cintura e IRX3 con EP en adultos latinoamericanos. Estas asociaciones persistieron tras el ajuste por sexo, edad y ascendencia genética. Aunque estos genes no estaban en LD, los hallazgos de un haplotipo entre FTO-IRX3 sugieren una interacción gen-gen asociada con un mayor riesgo de EP.

Lung function, COPD and Alternative Healthy Eating Index in US adults.

BACKGROUND: There is a large burden of COPD in the US. The purpose of this study was to investigate the association between diet quality with lung function, spirometric restriction and spirometrically defined COPD in a nationally representative sample of US adults. METHODS: Adults (19-70 years of age) from the National Health and Nutrition Examination Survey 2007-2012 cycles were included (n=10 428). Diet quality was determined using the Alternative Healthy Eating Index (AHEI-2010). Pre-bronchodilator measurements of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and the FEV1/FVC were described. Calibrated lower limit of normal (LLN) estimates were derived to determine prevalence of spirometric restriction (FVC0.05) compared to those in quartile 1. Higher AHEI was also associated with lower odds of spirometric restriction (OR 0.23, 95% CI 0.08-0.67; p-value AHEI*ethnicity >0.05). CONCLUSIONS: Diet quality was independently associated with better FEV1 and FVC and with lower odds of spirometric restriction. These findings highlight the need for research to further elucidate the possible beneficial role of diet in the preservation of lung function.

Household Food Insecurity, Lung Function, and COPD in US Adults.

Increasing epidemiological evidence suggests that optimal diet quality helps to improve preservation of lung function and to reduce chronic obstructive pulmonary disease (COPD) risk, but no study has investigated the association of food insecurity (FI) and lung health in the general population. Using data from a representative sample of US adults who participated in the National Health and Nutrition Examination Survey (NHANES) 2007-2012 cycles, we investigated the association between FI with lung function and spirometrically defined COPD in 12,469 individuals aged ≥ 18 years of age. FI (high vs. low) was defined using the US Department of Agriculture's Food Security Scale). Population-weighted adjusted regression models were used to investigate associations between FI, and forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), their ratio, and spirometrically defined restriction (FVC below the lower limit of normal) and airflow obstruction (COPD). The prevalence of household FI was 13.2%. High household FI was associated with lower FVC (adjusted ß-coefficient -70.9 mL, 95% CI -116.6, -25.3), and with higher odds (OR) of spirometric restriction (1.02, 95% CI 1.00, 1.03). Stratified analyses showed similar effect sizes within specific ethnic groups. High FI was associated with worse lung health in a nationally representative sample of adults in the US.

Diet quality, general health and anthropometric outcomes in a Latin American population: evidence from the Colombian National Nutritional Survey (ENSIN) 2010.

OBJECTIVE: Colombia is experiencing a nutrition transition, characterised by nutritionally poor diets and an increased prevalence of non-communicable diseases (NCD). We aimed to investigate the association between diet quality and general health outcomes related to the risk of NCD, in a nationally representative sample of Colombian adolescents and adults. DESIGN: Cross-sectional analysis. The Alternative Healthy-Eating Index (AHEI) was derived to calculate diet quality. Adjusted regressions were used to examine the association between AHEI, self-perceived general health status (GHS) and anthropometric variables (i.e. age-specific z-scores for height, and BMI for adolescents; waist circumference and BMI for adults). SETTING: Nationally representative data from the Colombian National Nutrition Survey (ENSIN) 2010. PARTICIPANTS: Adolescents aged 10-17 years (n 6566) and adults aged ≥18 years (n 6750). RESULTS: AHEI scores were similar between adolescents (mean 29·3 ± 7·2) and adults (mean 30·5 ± 7·2). In the whole sample, a better diet quality (higher AHEI score) was associated with worse self-perceived GHS (adjusted (a) ß-coefficient: -0·004; P < 0·001) and with a smaller waist circumference ((a) ß-coefficient: -0·06; P < 0·01). In adults, a higher AHEI score was negatively associated with BMI ((a) ß-coefficient: -0·02; P < 0·05), whilst in adolescents it was associated with a reduced height-for-age z-score ((a) ß-coefficient: -0·009; P < 0·001). CONCLUSIONS: A better diet quality was associated with reduced prevalence of predictors of NCD and with some indicators of general health in the Colombian population. In light of the high prevalence of overweight, our findings support the need for public health interventions focused on sustainable positive changes in dietary habits in the general population.

Changes in diet quality over 10 years of nutrition transition in Colombia: analysis of the 2005 and 2015 nationally representative cross-sectional surveys.

OBJECTIVES: To describe the changes in diet quality in Colombians using nationally representative samples from the 2005 and 2015 nutrition surveys. METHODS: Repeated cross-sectional analyses of the National Nutrition Surveys from 2005 and 2015. Children (4-17 y.o.) and adults (≥ 18 y.o.) were included. The Alternative Healthy-Eating Index (AHEI) was derived from 24-h recall questionnaires and used to examine diet quality. RESULTS: A total of 33,971 participants (20,122 children, 13,849 adults) were included in 2005, and 26,445 participants (15,304 children, 11,141 adults) in 2015. Over the ten-year period, the AHEI decreased from 46.3 to 44.3 in children (Cohen's d = 0.19) and from 49.0 to 46.2 in adults. (Cohen's d = 0.25). On average, those in the highest socioeconomic level had the worst diet quality; however, the difference between the less and most affluent groups shrank by 4.0% over the observation period. CONCLUSIONS: Between 2005 and 2015, there was a worsening in the diet quality of Colombian children and adults. Less affluent individuals had a greater worsening of diet quality compared to groups from higher socioeconomic levels.

A Common Variation in the Caveolin 1 Gene Is Associated with High Serum Triglycerides and Metabolic Syndrome in an Admixed Latin American Population.

BACKGROUND: The caveolin 1 (CAV1) gene has been associated with metabolic traits in animal models and human cohorts. Recently, a prevalent variant in CAV1 has been found to be related to metabolic syndrome in Hispanics living in North America. Since Hispanics represent an admixed population at high risk for cardiovascular diseases, in this study a Latin American population with a similar genetic background was assessed. OBJECTIVE: To analyze a genetic association between CAV1 and metabolic traits in an admixed Latin American population. METHODS: A cross-sectional study was carried out with adults from the Colombian Caribbean Coast, selected in urban clusters and work places through a stratified sampling to include diverse ages and socioeconomic groups. Blood pressure and waist circumference were registered. Serum concentrations of glucose, triglycerides, and high-density lipoprotein cholesterol were measured from an 8-hr fasting whole-blood sample. Two previously analyzed CAV1 single nucleotide polymorphisms were genotyped (rs926198 and rs11773845). A logistic regression model was applied to estimate the associations. An admixture adjustment was performed through a Bayesian model. RESULTS: A total of 605 subjects were included. rs11773845 was associated with hypertriglyceridemia [odds ratio (OR) = 1.33, p = 0.001] and the metabolic syndrome (OR = 1.53, p = 0.02). When admixture adjustment was performed these genetic associations preserved their statistical significance. There were no significant associations between rs926198 and metabolic traits. CONCLUSIONS: The CAV1 variation rs11773845 was found to be consistently associated with high serum triglycerides and the metabolic syndrome. This is the first report of a relationship between CAV1 variants and serum triglycerides in Latin America.

Asociación del consumo de alcohol y tabaco con la obesidad en adultos de Cartagena de Indias, Colombia / Association of Alcohol Drinking and Smoking with Obesity in Adults from Cartagena de Indias, Colombia

Resumen Objetivo: Estimar la asociación del consumo de alcohol y tabaco con el sobrepeso y la obesidad. Material y métodos: Se llevó a cabo un estudio de corte transversal. Se registraron los antecedentes de consumo de alcohol (gr/día) y tabaco (paquetes/año). El índice de masa corporal fue empleado para definir obesidad. La asociación fue estimada por regresión logística y la obesidad fue la variable respuesta. Resultados: Se incluyeron 675 sujetos. Los bebedores activos correspondieron al 68.4 %, y los fumadores fueron el 20.6 %. La frecuencia de sobrepeso y obesidad fue 41.1 y 18.5 %, respectivamente. El consumo de alcohol estuvo asociado con sobrepeso y obesidad (OR = 1.1, IC95 % [1.01-1.21], p = 0.02). El hábito de fumar no mostró asociación significativa (OR = 0.91, IC95 % [0.83-1.00], p = 0.06). Conclusiones: El consumo de alcohol estuvo asociado con el exceso de peso, mientras que el hábito de fumar aumentó el riesgo de obesidad en sujetos con sobrepeso.

Abstract Objective: Objective: to estimate the association of alcohol drinking and smoking with overweight and obesity. Material and Methods: A cross-sectional study was carried out. History of alcohol (gr/day) and tobacco (packs/year) consumption was registered. Body Mass Index was employed for overweight and obesity definition. Associations were estimated through logistic regression and a regression tree was applied. Results: A total of 675 subjects were included. Current-drinkers were 68.4% of total simple and current-smokers were 20.6%. Overweight and obesity frequencies were 41.1 and 18.5%, respectively. Alcohol consumption was associated to overweight and obesity (OR=1.1, p=0.02). There were no significant associations with smoking. Conclusions: Alcohol drinking was found to be associated with higher body weight excess, while smoking facilitates obesity development in overweight subjects.

Frequency of common polymorphisms in Caveolin 1 (CAV1) gene in adults with high serum triglycerides from Colombian Caribbean Coast / Frecuencia de polimorfismos comunes en el gen de Caveolina 1 (CAV1) en adultos con hipertrigliceridemia en el Caribe Colombiano

Abstract Background: Caveolin 1 gene (CAV1) has been associated with insulin resistance, metabolic syndrome and hypertension in humans. Also, it has been related to high serum triglycerides in rodents, however there is little evidence of this relation in humans. Aim: To describe frequencies of common variations in CAV1 in adults with high serum triglycerides. Methods: A case-control study was carried out with adults from Colombian Caribbean Coast. A whole blood sample was employed to measure serum concentrations of triglycerides, glucose, total cholesterol and HDLc. Six common Single Nucleotide Polymorphism (SNP) in CAV1 were genotyped (rs926198, rs3779512, rs10270569, rs11773845, rs7804372 and rs1049337). Allelic and genotypic frequencies were determined by direct count and Hardy-Weinberg Equilibrium (HWE) was assessed. Case and control groups were compared with null-hypothesis tests. Results: A total of 220 cases and 220 controls were included. For rs3779512 an excess in homozygotes frequency was found within case group (40.4% (GG), 41.3% (GT) and 18.1% (TT); Fis=0.13, p=0.03). Another homozygotes excess among case group was found in rs7804372 (59.5% (TT), 32.3% (TA) and 8.2% (AA); Fis= 0.12, p= 0.04). In rs1049337, cases also showed an excess in homozygotes frequency (52.7% (CC), 35.0% (CT) and 12.3% (TT); Fis= 0.16, p= 0.01). Finally, for rs1049337 there were differences in genotype distribution between case and control groups (p <0.05). Conclusion: An increased frequency of homozygote genotypes was found in subjects with high serum triglycerides. These findings suggest that minor alleles for SNPs rs3779512, rs7804372 and rs1049337 might be associated to higher risk of hypertriglyceridemia.

Resumen Introducción: En humanos, el gen Caveolina 1 (CAV1) ha sido asociado con resistencia a la insulina, síndrome metabólico e hipertensión. Además, ha sido relacionado con hipertrigliceridemia en roedores, sin embargo existe poca evidencia de esta relación en humanos. Objetivo: Describir la frecuencia de variaciones comunes del gen CAV1 en adultos con hipertrigliceridemia. Métodos: Se realizó un estudio de casos y controles con adultos del Caribe Colombiano. Fue usada una muestra de sangre venosa periférica para medir las concentraciones séricas de triglicéridos, glucosa, colesterol total y colesterol HDL. Fueron genotipificados seis Polimorfismos de Nucleótido Simple (SNP) en CAV1 (rs926198, rs3779512, rs10270569, rs11773845, rs7804372 y rs1049337). Las frecuencias alélicas y genotípicas se determinaron por conteo directo y se evaluó el equilibrio de Hardy-Weinberg. Los grupos de casos y controles se compararon con pruebas de hipótesis nula. Resultados: Se incluyeron un total de 220 casos y 220 controles. Para rs3779512 se encontró un exceso de homocigotos en el grupo de casos (40.4% (GG), 41.3% (GT) y 18.1% (TT); Fis= 0.13, p= 0.03). Fue encontrado otro exceso de homocigotos en el grupo de casos al analizar el rs7804372 (59.5% (TT), 32.3% (TA) y 8.2% (AA); Fis= 0.12, p= 0.04). En rs1049337, los casos también tuvieron un exceso en la frecuencia de homocigotos (52.7% (CC), 35.0% (CT) y 12.3% (TT); Fis= 0.16, p= 0.01). Finalmente, hubo diferencias en la distribución genotípica del rs1049337 entre los grupos de casos y controles (p <0.05). Conclusiones: Se encontró una elevada frecuencia de homocigotos en los sujetos con hipertrigliceridemia. Estos hallazgos sugieren que los alelos menores de los SNPs rs3779512, rs7804372 y rs1049337 podrían estar asociados con trigliceridemia elevada.

Variations in ADIPOR1 But Not ADIPOR2 are Associated With Hypertriglyceridemia and Diabetes in an Admixed Latin American Population.

BACKGROUND: Adiponectin is a hormone secreted by adipose tissue. It regulates glycolysis and lipolysis and is involved in the pathophysiology of diabetes and related disorders. Its activity is mainly mediated by the transmembrane receptors AdipoR1 and AdipoR2, which are encoded by ADIPOR1 (1q32.1) and ADIPOR2 (12p13.33) genes, respectively. In genetic association studies, single nucleotide polymorphisms (SNPs) in or near these genes have been associated with metabolic alterations. However, these relationships are still controversial. AIM: The aim of this work was to analyze possible associations between ADIPOR1/2 and diabetes and other metabolic disorders. METHODS: A genetic association study was carried out in an admixed Latin American population. A sample of 200 adults was analyzed. Clinical and serum-biochemical characteristics were measured to diagnose obesity, abdominal obesity, hypertension, hyperglycemia, hypertriglyceridemia, low HDLc, insulin resistance (HOMA-IR), and diabetes. Three SNPs were genotyped in ADIPOR1 (rs10494839, rs12733285, and rs2275737) and ADIPOR2 (rs11061937, rs11612383, and rs2286383). For the association analysis, an additive model was assessed through logistic regression. An admixture adjustment was performed using a Monte-Carlo-Markov-Chain method, assuming a three-hybrid substructure (k = 3). RESULTS: Two SNPs in ADIPOR1 were associated with diabetes: rs10494839 (OR = 3.88, adjusted p < 0.03) and rs12733285 (OR = 4.72, adjusted p < 0.03). Additionally, rs10494839 was associated with hypertriglyceridemia (OR = 2.16, adjusted p < 0.01). None of the SNPs in ADIPOR2 were associated with metabolic disorders. CONCLUSIONS: ADIPOR1 was consistently associated with diabetes and hypertriglyceridemia. This association was maintained even after adjusting for genetic stratification. There were no significant associations involving ADIPOR2.

Analysis of Health Indicators in Two Rural Communities on the Colombian Caribbean Coast: Poor Water Supply and Education Level Are Associated with Water-Related Diseases.

Water-related diseases are closely linked with drinking water, sanitation, and hygiene (WASH) indicators, socioeconomic status, education level, or dwelling's conditions. Developing countries exhibit a particular vulnerability to these diseases, especially rural areas and urban slums. This study assessed socioeconomic features, WASH indicators, and water-related diseases in two rural areas of the Colombian Caribbean coast. Most of this population did not finish basic education (72.3%, N = 159). Only one of the communities had a water supply (aqueduct), whereas the other received water via an adapted tanker ship. No respondents reported sewage services; 92.7% (N = 204) had garbage service. Reported cases of diarrhea were associated with low education levels (P = 2.37 × 10-9) and an unimproved drinking water supply (P = 0.035). At least one fever episode was reported in 20% (N = 44) of dwellings, but the cases were not related to any indicator. The Aedes/House index (percentage of houses that tested positive for Aedes larvae and/or pupae) was 69%, the container index (percentage of water-holding containers positive for Aedes larvae or pupae) 29.4%, and the Breteau index (number of positive containers per 100 houses in a specific location) was three positive containers per 100 inspected houses. The presence of positive containers was associated with the absence of a drinking water supply (P = 0.04). The community with poorer health indicators showed greater health vulnerability conditions for acquisition of water-related diseases. In summary, water supply and educational level were the main factors associated with the presence of water-related diseases in both communities.

Frequency of common polymorphisms in Caveolin 1 ( CAV1 ) gene in adults with high serum triglycerides from Colombian Caribbean Coast.

BACKGROUND: Caveolin 1 gene (CAV1) has been associated with insulin resistance, metabolic syndrome and hypertension in humans. Also, it has been related to high serum triglycerides in rodents, however there is little evidence of this relation in humans. AIM: To describe frequencies of common variations in CAV1 in adults with high serum triglycerides. METHODS: A case-control study was carried out with adults from Colombian Caribbean Coast. A whole blood sample was employed to measure serum concentrations of triglycerides, glucose, total cholesterol and HDLc. Six common Single Nucleotide Polymorphism (SNP) in CAV1 were genotyped (rs926198, rs3779512, rs10270569, rs11773845, rs7804372 and rs1049337). Allelic and genotypic frequencies were determined by direct count and Hardy-Weinberg Equilibrium (HWE) was assessed. Case and control groups were compared with null-hypothesis tests. RESULTS: A total of 220 cases and 220 controls were included. For rs3779512 an excess in homozygotes frequency was found within case group (40.4% (GG), 41.3% (GT) and 18.1% (TT); Fis=0.13, p=0.03). Another homozygotes excess among case group was found in rs7804372 (59.5% (TT), 32.3% (TA) and 8.2% (AA); Fis= 0.12, p= 0.04). In rs1049337, cases also showed an excess in homozygotes frequency (52.7% (CC), 35.0% (CT) and 12.3% (TT); Fis= 0.16, p= 0.01). Finally, for rs1049337 there were differences in genotype distribution between case and control groups (p <0.05). CONCLUSION: An increased frequency of homozygote genotypes was found in subjects with high serum triglycerides. These findings suggest that minor alleles for SNPs rs3779512, rs7804372 and rs1049337 might be associated to higher risk of hypertriglyceridemia.

INTRODUCCIÓN: En humanos, el gen Caveolina 1 (CAV1) ha sido asociado con resistencia a la insulina, síndrome metabólico e hipertensión. Además, ha sido relacionado con hipertrigliceridemia en roedores, sin embargo existe poca evidencia de esta relación en humanos. OBJETIVO: Describir la frecuencia de variaciones comunes del gen CAV1 en adultos con hipertrigliceridemia. MÉTODOS: Se realizó un estudio de casos y controles con adultos del Caribe Colombiano. Fue usada una muestra de sangre venosa periférica para medir las concentraciones séricas de triglicéridos, glucosa, colesterol total y colesterol HDL. Fueron genotipificados seis Polimorfismos de Nucleótido Simple (SNP) en CAV1 (rs926198, rs3779512, rs10270569, rs11773845, rs7804372 y rs1049337). Las frecuencias alélicas y genotípicas se determinaron por conteo directo y se evaluó el equilibrio de Hardy-Weinberg. Los grupos de casos y controles se compararon con pruebas de hipótesis nula. RESULTADOS: Se incluyeron un total de 220 casos y 220 controles. Para rs3779512 se encontró un exceso de homocigotos en el grupo de casos (40.4% (GG), 41.3% (GT) y 18.1% (TT); Fis= 0.13, p= 0.03). Fue encontrado otro exceso de homocigotos en el grupo de casos al analizar el rs7804372 (59.5% (TT), 32.3% (TA) y 8.2% (AA); Fis= 0.12, p= 0.04). En rs1049337, los casos también tuvieron un exceso en la frecuencia de homocigotos (52.7% (CC), 35.0% (CT) y 12.3% (TT); Fis= 0.16, p= 0.01). Finalmente, hubo diferencias en la distribución genotípica del rs1049337 entre los grupos de casos y controles (p <0.05). CONCLUSIONES: Se encontró una elevada frecuencia de homocigotos en los sujetos con hipertrigliceridemia. Estos hallazgos sugieren que los alelos menores de los SNPs rs3779512, rs7804372 y rs1049337 podrían estar asociados con trigliceridemia elevada.

Frecuencia de enfermedades huérfanas en Cartagena de Indias, Colombia / Frequency for genetic orphan diseases in Cartagena de Indias, Colombia

RESUMEN Objetivo Estimar la frecuencia de enfermedades huérfanas (EH) o raras (ER) de origen genético en Cartagena de Indias, Colombia. Metodología Se realizó un estudio descriptivo con datos de los Registros Individuales de Prestación de Servicios (RIPS), del periodo 2003-2010, conservados por el Departamento Administrativo Distrital de Salud-DADIS. Fueron escogidas las EH de origen genético a partir de la clasificación del Ministerio de Salud Colombiano, y que se identifican con la referencia Q en los Códigos Internacionales de Enfermedad (CIE10). Resultados En total se registraron 522 181 personas que consultaron al sistema de salud. El 0,8 % (n=16 527) tuvieron algún diagnóstico Q. Finalmente, 391 personas (0,075 %) tuvieron impresión diagnóstica de EH de origen genético. En esta población se encontraron 75 impresiones diagnósticas distintas. Las Malformaciones y Deformidades Congénitas del Sistema Osteomuscular (Q65-Q79) fueron las más frecuentes (38,6 %), seguidas por Otras Malformaciones Congénitas (Q080-089) con 16,6 %. Conclusiones Se obtuvo el primer reporte de la frecuencia de las EH de origen genético en la segunda ciudad más poblada sobre el litoral del Caribe Colombiano. Es posible que en los RIPS haya un subregistro de las ER que dificulta conocer la prevalencia real.(AU)

ABSTRACT Objective Estimating the frequency of genetic orphan diseases in Cartagena de Indias (Colombia). Methodology A cross-sectional study was carried out employing data from the Health Care Service Individual Records (RIPS) of 2003-2010, kept by the District Administrative Department of Health-DADIS- in Cartagena de Indias. Genetic ODs included in national classification from Colombian Ministry of Health were chosen, and those identify by the Q reference according to the International Codes of Disease (ICD10) were finally selected for descriptive analysis. Results A total of 522 181 people who consulted the health system were recorded. 0.8 % (n=16 527) had a diagnosis Q. Finally, 391 people (0.075 %) had diagnostic impression of genetic OD. Within this population, 75 different diagnostic impressions were found. Congenital malformations and deformities of the musculoskeletal system (Q65-Q79) were the most frequent (38.6 %), followed by Other Congenital Malformations (Q080-089) with 16.6 %. Conclusions It was obtained the first report of the frequency of genetic orphan diseases from the second largest on the Colombian Caribbean coast city. It is suspected that misreporting in RIPS database is reducing actual frequency of OD. Further active search could reveal complete prevalence.(AU)

Construcción de un modelo animal de fibrosis pulmonar inducido por Bleomicina / Making an animal model of Bleomycin-induced pulmonary fibrosis

La fibrosis pulmonar es una enfermedad crónica, progresiva y letal, cuya etiología se desconoce. El modelo de fibrosis pulmonar inducida por Bleomicina en ratas es útil para ilustrar la patobiología in vivo de la enfermedad, así como para identificar nuevos blancos farmacológicos y estimar la eficiencia de nuevas moléculas o procedimientos Objetivo: El objetivo de este trabajo fue construir un modelo animal de fibrosis pulmonar secundaria a Bleomicina, en ratas Wistar, como herramienta que pueda servir de base para futuros diseños experimentales. Materiales y métodos: Se trabajó con dos grupos de ratas Wistar para la administración del medicamento por vía intratraqueal. El grupo experimental recibió una dosis única (2.0 U/Kg) de Bleomicina, mientras que el grupo control recibió un volumen equivalente de solución salina. A los 14 o 28 días se realizó un lavado broncoalveolar con recuento total y diferencial celular y análisis histopatológico pulmonar. Resultados: La histología de una parte del grupo experimental tratado con Bleomicina y sacrificado a los 14 días reveló daño pulmonar caracterizado por inflamación aguda, hemorragia intraalveolar y proliferación fibroblástica intersticial incipiente; en el resto del grupo experimental la histología a 28 días reveló además alteración de la arquitectura pulmonar debida a fibrosis y aumento en el número de macrófagos intraalveolares e inflamación linfocitaria. Conclusiones: Se implementó satisfactoriamente un modelo de fibrosis pulmonar inducido farmacológicamente por Bleomicina en ratas Wistar.

Pulmonary fibrosis is a chronic, progressive and fatal disease, whose etiology is unknown. The model of Bleomycininduced pulmonary fibrosis in rats is useful to illustrate the pathobiology of the disease in vivo as well as to identify new drug targets and to estimate the efficacy of new promising molecules or procedures. Objective: The aim of this work was to make an animal model of pulmonary fibrosis secondary to bleomycin, in Wistar rats, as a tool that can serve as a basis for future experimental designs. Materials and methods: We worked with two groups of Wistar rats which were anesthetized and intubated for intratracheally drug administration. The experimental group received a single dose (2.0 U / kg) of Bleomycin, while the control group received an equivalent volume of saline. At 14 or 28 days after treatment, a bronchoalveolar lavage with total and differential cellular count were performed. Additionally, the lungs were dissected for histopathogical analysis. Results: In the experimental group treated with Bleomycin and sacrificed at 14 days, histology revealed lung damage characterized by acute inflammation, intra-alveolar hemorrhage and fibroblast proliferation; in sacrificed animals at 28 days, alteration of lung architecture due to fibrosis evidenced by trichrome stain, increase in the alveolar macrophages number and lymphocytic chronic inflammation were observed. Conclusions: In this study, a model of pharmacologically induced pulmonary fibrosis by Bleomycin has been successfully implemented.

[Frequency for genetic orphan diseases in Cartagena de Indias, Colombia]. / Frecuencia de enfermedades huérfanas en Cartagena de Indias, Colombia.

OBJECTIVE: Estimating the frequency of genetic orphan diseases in Cartagena de Indias (Colombia). METHODOLOGY: A cross-sectional study was carried out employing data from the Health Care Service Individual Records (RIPS) of 2003-2010, kept by the District Administrative Department of Health-DADIS- in Cartagena de Indias. Genetic ODs included in national classification from Colombian Ministry of Health were chosen, and those identify by the Q reference according to the International Codes of Disease (ICD10) were finally selected for descriptive analysis. RESULTS: A total of 522 181 people who consulted the health system were recorded. 0.8 % (n=16 527) had a diagnosis Q. Finally, 391 people (0.075 %) had diagnostic impression of genetic OD. Within this population, 75 different diagnostic impressions were found. Congenital malformations and deformities of the musculoskeletal system (Q65-Q79) were the most frequent (38.6 %), followed by Other Congenital Malformations (Q080-089) with 16.6 %. CONCLUSIONS: It was obtained the first report of the frequency of genetic orphan diseases from the second largest on the Colombian Caribbean coast city. It is suspected that misreporting in RIPS database is reducing actual frequency of OD. Further active search could reveal complete prevalence.

OBJETIVO: Estimar la frecuencia de enfermedades huérfanas (EH) o raras (ER) de origen genético en Cartagena de Indias, Colombia. METODOLOGÍA: Se realizó un estudio descriptivo con datos de los Registros Individuales de Prestación de Servicios (RIPS), del periodo 2003-2010, conservados por el Departamento Administrativo Distrital de Salud-DADIS. Fueron escogidas las EH de origen genético a partir de la clasificación del Ministerio de Salud Colombiano, y que se identifican con la referencia Q en los Códigos Internacionales de Enfermedad (CIE10). RESULTADOS: En total se registraron 522 181 personas que consultaron al sistema de salud. El 0,8 % (n=16 527) tuvieron algún diagnóstico Q. Finalmente, 391 personas (0,075 %) tuvieron impresión diagnóstica de EH de origen genético. En esta población se encontraron 75 impresiones diagnósticas distintas. Las Malformaciones y Deformidades Congénitas del Sistema Osteomuscular (Q65-Q79) fueron las más frecuentes (38,6 %), seguidas por Otras Malformaciones Congénitas (Q080-089) con 16,6 %. CONCLUSIONES: Se obtuvo el primer reporte de la frecuencia de las EH de origen genético en la segunda ciudad más poblada sobre el litoral del Caribe Colombiano. Es posible que en los RIPS haya un subregistro de las ER que dificulta conocer la prevalencia real.

Anthropometric parameters' cut-off points and predictive value for metabolic syndrome in women from Cartagena, Colombia.

Objective. To estimate anthropometric parameters' (APs) cut-off points and association for metabolic syndrome (MetS). Materials and methods. A cross-sectional study was carried out with a total of 434 adult women from Cartagena de Indias, Colombia, in 2012. APs measured were waist circumference (WC), body mass index (BMI), body adiposity index (BAI), waist-hip ratio (WHR) and waist-height ratio (WHtR). Cut-off points were estimated by a receiver operating characteristic curve (ROC). Logistic regression was applied to estimate possible associations. Results. Cut-off points for WC, BMI, BAI, WHR and WHtR were 85 cm, 28 kg/m(2), 39%, 0.80 and 56, respectively. Only WHtR was associated to MetS (OR=1.11, CI95% [1.07-1.15]). Conclusion. WC cut-off point was higher than those proposed for Latin-American women by the Joint Interim Statement (JIS). WHtR had a low predictive value for MetS.

Anthropometric parameters' cut-off points and predictive value for metabolic syndrome in women from Cartagena, Colombia / Puntos de corte y valor predictivo de medidas antropométricas para el síndrome metabólico en Cartagena, Colombia

Objective. To estimate anthropometric parameters' (APs) cut-off points and association for metabolic syndrome (MetS). Materials and methods. A cross-sectional study was carried out with a total of 434 adult women from Cartagena de Indias, Colombia, in 2012. APs measured were waist circumference (WC), body mass index (BMI), body adiposity index (BAI), waist-hip ratio (WHR) and waist-height ratio (WHtR). Cut-off points were estimated by a receiver operating characteristic curve (ROC). Logistic regression was applied to estimate possible associations. Results. Cut-off points for WC, BMI, BAI, WHR and WHtR were 85 cm, 28 kg/m², 39%, 0.80 and 56, respectively. Only WHtR was associated to MetS (OR=1.11, CI95% [1.07-1.15]). Conclusion. WC cut-off point was higher than those proposed for Latin-American women by the Joint Interim Statement (JIS). WHtR had a low predictive value for MetS.

Objetivo. Estimar los puntos de corte y asociación de las medidas antropométricas para obesidad con el síndrome metabólico (SMet). Material y métodos. Se realizó un estudio de corte transversal con 434 mujeres adultas, en Cartagena de Indias, Colombia, durante 20I2. Se midieron la circunferencia abdominal (CA), el índice de masa corporal (IMC), el índice de adiposidad corporal (IAC) y las razones cintura-cadera (RCC) y cintura-talla (RCT). Los puntos de corte fueron determinados mediante la curva ROC. La fuerza de asociación se estimó por regresión logística. Resultados. Los puntos de corte para CA, IMC, IAC, RCC y RCT fueron, respectivamente, 85 cm, 28 kg/m², 39%, 0.80 y 56. De los parámetros evaluados sólo RCT se asoció con SMet (OR= 1.11, IC95% [1.07-1.15]). Conclusión. El punto de corte para circunferencia abdominal fue superior al reportado en América Latina, según el criterio de declaración provisional conjunta (JIS). La asociación de RCT con SMet fue baja.

[Agreement between Five Definitions of Metabolic Syndrome: Cartagena, Colombia]. / Concordancia entre cinco definiciones de síndrome metabólico: Cartagena, Colombia.

BACKGROUND: During last decade the metabolic syndrome has been defined by five different guidelines. Discrepancies in such definitions could influence syndrome predictive ability over cardiovascular diseases. The aim of this study was to determine the degree of agreement between these five guidelines, in population from Cartagena (Colombia). METHODS: A cross sectional study was conducted in adults from urban zone. Sample size was estimated based on 2005 DANE census, which included 670 individuals. The prevalence of metabolic syndrome was determined through the WHO (World Health Organization), AHA/NHLBI (American Heart Association/National Heart Lung and Blood Institute), ATP III (Adult Treatment Panel III), IDF (International Diabetes Federation) and JIS (Joint Interim Statement) guidelines. Frequencies obtained were compared through Cohen's kappa index. RESULTS: According to JIS, IDF, ATPIII, AHA/NHBLI and WHO guidelines, metabolic syndrome prevalence was 36.3% [32.6 - 39.9], 35.1%, 30.3%, 24.2% and 4.9%. Agreement between JIS and IDF was 0.893, while index for these two guidelines with AHA/NHLBI was 0.778 y 0.750, respectively. ATPIII had a lower agreement with JIS and IDF (0.711 and 0.645, respectively), however with AHA/NHLBI agreement was 0.863. WHO presented a agreement with the others guidelines between 0.14 and 0.16. CONCLUSIONS: Significant agreement was found between the four most recent guidelines. Abdominal obesity cut-off points might support differences agreement differences.

Concordancia entre cinco definiciones de síndrome metabólico. Cartagena, Colombia / Agreement between five definitions of metabolic syndrome. Cartagena, Colombia

Fundamentos: Durante la última década el síndrome metabólico fue definido en cinco diferentes guías. Con cada definición se modifica la capacidad predictiva del síndrome sobre la enfermedad cardiovascular. El objetivo del presente estudio fue determinar el grado de concordancia entre estas cinco guías en Cartagena (Colombia). Métodos: Se realizó un estudio de corte transversal en adultos. El tamaño mínimo de muestra se estimó con información del censo DANE 2005. Se realizó un muestreo por conglomerados bietápico que incluyó 670 individuos. Para estimar la prevalencia del síndrome se aplicaron las guías OMS (Organización Mundial de la Salud), AHA/NHBLI (Asociación Americana del Corazón), ATPIII (Panel de Tratamiento de Adultos), IDF (Federación Internacional de Diabetes) y JIS (Declaración Provisional Conjunta). La concordancia fue calculada con el índice Kappa de Cohen. Resultados: Según las guías JIS, IDF, ATPIII, AHA/NHBLI y OMS, la prevalencia de síndrome metabólico fue del 36,3%, 35,1%, 30,3%, 24,2% y 4,9% respectivamente. La concordancia entre JIS e IDF fue de 0,893 mientras que el índice entre estas guías y AHA/NHBLI fue de 0,778 y 0,750 respectivamente. El ATP III tuvo una concordancia más baja con JIS e IDF (0,711 y 0,645, respectivamente) pero con AHA/NHLBI la concordancia fue de 0,863. La OMS presentó un acuerdo con las demás guías de entre 0,14 y 0,16. Conclusiones: Existe concordancia significativa entre las cuatro guías más recientes. Los puntos de corte para obesidad abdominal podrían justificar las diferencias encontradas(AU)

Background: During last decade the metabolic syndrome has been defined by five different guidelines. Discrepancies in such definitions could influence syndrome predictive ability over cardiovascular diseases. The aim of this study was to determine the degree of agreement between these five guidelines, in population from Cartagena (Colombia). Methods: A cross sectional study was conducted in adults from urban zone. Sample size was estimated based on 2005 DANE census, which included 670 individuals. The prevalence of metabolic syndrome was determined through the WHO (World Health Organization), AHA/NHLBI (American Heart Association/National Heart Lung and Blood Institute),ATP III (Adult Treatment Panel III), IDF (International Diabetes Federation) and JIS (Joint Interim Statement) guidelines. Frequencies obtained were compared through Cohen's kappa index Results: According to JIS, IDF, ATPIII, AHA/NHBLI and WHO guidelines, metabolic syndrome prevalence was 36.3% [32.6 - 39.9], 35.1%, 30.3%, 24.2% and 4.9%. Agreement between JIS and IDF was 0.893, while index for these two guidelines with AHA/NHLBI was 0.778 y 0.750, respectively. ATPIII had a lower agreement with JIS and IDF (0.711 and 0.645, respectively), however withAHA/NHLBI agreement was 0.863.WHO presented a agreement with the others guidelines between 0.14 and 0.16. Conclusions: Significant agreement was found between the four most recent guidelines. Abdominal obesity cut-off points might support differences agreement differences(AU)

[The seroprevalence of IgG antibodies against rubella (German measles) in 10-49 year-old women from Cartagena, Colombia]. / Seroprevalencia de IgG contra Rubeola en mujeres entre 10-49 años, en Cartagena, Colombia.

OBJECTIVE: Determining immunoglobulin G (IgG) against the rubella virus (RV) causing German measles in Cartagena and whether vaccination goals against German measles have been achieved. METHODS: A cross-sectional study was carried out during 2009; females aged 10-49 years were included. Selection was randomised. Socio-demographic variables were recorded in face-to-face interviews. IgG against RV was detected by ELISA. X2 and Fisher's exact tests were used for comparing variables. A logistic regression model was used for correlating data. RESULTS: A total of 1,528 serum samples were analysed; 93 % (n=1,422) were seropositive. The lowest seropositivity was reported in girls aged 10-14. Differences regarding seroprevalence percentages were statistically significant between age ranges (p<0.001) and employment (p=0.042). A high risk of seronegativity was reported for girls aged 10-14 (OR=0.27; p<0.001). CONCLUSIONS: Seroprevalence goals against RV had not been reached in Cartagena and new cases of rubella (German measles) or congenital rubella (German measles)syndrome are still possible in the area. These findings revealed that no significant progress had been made since 2006 when German measles vaccine coverage was 90 %-95 %. High risk in girls aged 10-14 suggests that the local immunisation programme fails in MMR vaccine administration.