ABSTRACT Flours from wheat, corn, lentils, and rice are essential for the formulation of various high-consumption foods in the Chilean population. The extrusion process is widely used by the food industry to generate properties that allow for the instant reconstitution of flours. However, this technological process affects the nutritional properties of the carbohydrates (CHO) in the food ingredient, including quantity, stability, and digestibility; characteristics that directly impact the glycemic response of individuals and the glycemic index of foods. This review analyzes the effect of extrusion on the nutritional properties of CHO in foods made from commonly consumed flours in Chile. Factors such as temperature, and to a lesser extent, humidity, and speed used in the extrusion process, along with the origin of the grain used, determine the healthy properties of CHO in extruded flours. The utility of adjusting the mentioned variables in the extrusion process would allow for the standardization of industrial scaling in the production of extruded foods that would positively impact the starch hydrolysis rate and glycemic index of wheat, corn, lentil, or rice flours, and foods formulated from them.

RESUMEN Las harinas de trigo, maíz, lentejas y arroz son elementales para la formulación de distintos alimentos de alto consumo en la población chilena. El proceso de extrusión es ampliamente utilizado por la industria alimentaria para generar propiedades que permitan la reconstitución instantánea de harinas. Sin embargo, dicho proceso tecnológico; afecta la cantidad, la estabilidad y la digestibilidad de los hidratos de carbono (CHO) del ingrediente alimentario. Estas propiedades nutricionales impactan directamente en la respuesta glicémica de los individuos y en el índice glicémico (IG) de los alimentos. La presente revisión analiza el efecto de la extrusión sobre las propiedades nutricionales de los CHO de alimentos elaborados a partir de harinas de consumo habitual en Chile. Factores como la temperatura, y en menor grado, la humedad y velocidad utilizadas en el proceso de extrusión, junto con el origen del grano utilizado, determinan las propiedades nutricionales de CHO presente en harinas extruidas. El estudio, control y estandarización de estas variables operacionales permitiría estandarizar la elaboración industrial de productos extruidos, impactando favorablemente; sobre la velocidad de hidrólisis de almidón y el IG de harinas de trigo, maíz, lentejas o arroz; y de alimentos formulados a partir de ellas.

Abstract Background: genetic variants of the FTO gene confer the highest risk of obesity identified so far. Associations between the FTO gene and alterations in metabolic markers have been reported in different populations but not in Chileans. The aim of this study was therefore to investigate the association of rs3751812 gene polymorphism with adiposity and metabolic markers in the Chilean adult population. Methods: genotype of the FTO gene was determined in 409 participants from the GENADIO study. Adiposity markers (body weight, BMI, % fat mass and waist circumference), metabolic markers (glycemia, insulin, HOMAIR, total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides, leptin, ALT, GGT, PCRhs) and blood pressure were measured. The association between the FTO genotype and the different markers was determined using linear regression analyses. Results: there was an association between the polymorphism and all adiposity markers as well as insulin, HOMAIR, leptin and HDL cholesterol (p < 0.05) in the fully adjusted model. For total cholesterol, triglycerides, LDL cholesterol, ALT, GGT and PCRhs, the association disappeared after adjustment by body mass index. Conclusion: our findings verify the association between the FTO rs3751812 polymorphism with obesity, hyperinsulinemia, hyperleptinemia and lower levels of HDL cholesterol in the Chilean population. These alterations could increase the risk of diabetes mellitus type II and metabolic syndrome.

Resumen Antecedentes: el gen FTO presenta las variantes genéticas que confieren el mayor riesgo de obesidad hasta ahora identificado. Se han reportado asociaciones de polimorfismos del gen FTO y alteraciones de marcadores metabólicos en diversas poblaciones, pero no en chilenos. El objetivo de este estudio fue investigar la asociación del polimorfismo rs3751812 con marcadores de adiposidad y metabólicos en adultos chilenos. Métodos: se determinó el genotipo del FTO en 409 participantes del estudio GENADIO. Se evaluaron marcadores de adiposidad (peso corporal, índice de masa corporal [IMC], % de masa grasa y perímetro de cintura), marcadores metabólicos (glicemia, insulina, HOMAIR, colesterol total, colesterol LDL, colesterol HDL, triglicéridos, leptina, ALT, GGT, PCRus) y presión arterial. La asociación entre el genotipo FTO y los distintos marcadores se realizó mediante análisis de regresión lineal. Resultados: tras ajustar los marcadores por las variables de confusión, se evidenció una asociación significativa de los genotipos de riesgo con todos los marcadores de adiposidad estudiados y con los marcadores metabólicos: insulina, HOMAIR, leptina y colesterol HDL (p < 0,05). Para colesterol total, triglicéridos, colesterol LDL, ALT, GGT y PCRus, la asociación perdió significancia al ajustar por IMC. Conclusión: este estudio revela que existe una asociación entre el polimorfismo rs3751812 del gen FTO con obesidad, hiperinsulinemia, hiperleptinemia y bajos niveles de colesterol HDL en la población chilena, lo que podría aumentar el riesgo de desarrollar diabetes mellitus tipo II y síndrome metabólico.

Background: Fat-mass-associated-gene (FTO) is associated with higher energy intake and specific food preferences. Aim: To investigate the association of the FTO genotype with energy intake, macronutrient and alcohol consumption. Material and Methods: Four hundred and nine participants of the GENADIO (Genes, Environment, Diabetes and Obesity) study were included. Energy intake, macronutrient and alcohol consumption were the outcomes of interest. The association of FTO (rs9939609) genotype with these outcomes was investigated using linear regression analyses, adjusting for confounding variables. Results: After adjusting for socio-demographic factors, being a carrier of the risk allele for the FTO gene was associated with a higher energy intake (173 kcal per each extra copy of the risk variant [95% confidence intervals (CI): 45; 301], (P = 0.008). After adjusting for lifestyle factors and body mass index, the association was slightly attenuated but remained significant (144 kcal [95% CI: 14; 274], p = 0.030). Conclusions: The FTO genotype is associated with a higher energy intake.

Abstract Introduction: the histological alteration in the small intestine of the celiac patients produces a poor absorption that deteriorates or hinder an optimal weight gain. This can be the result of an increase expression of the Th17 gluten-specific interleukins. Objective: the aim of this study was to compare the expression of Th17 interleukins in celiac patients with normal and overweight/obese nutritional status. Methods: a total of 22 patients with newly diagnosed celiac disease were eligible: 15 patients with normal weight and seven overweight/obese. Small intestine biopsies were taken for the evaluation of the expression of interleukins through real-time PCR. Results: expression levels of Th17 interleukins showed a tendency to be higher in intestinal biopsies of overweight/obese patients compared to normal weight celiac subjects; however, this difference was not statistical significant. Conclusion: body weight excess in celiac patients is not influenced by the expression levels of Th17 interleukins.

Resumen Introducción: la alteración histológica en el intestino delgado de los enfermos celiacos produce una pobre absorción que deteriora o dificulta una ganancia óptima de peso. Esto puede ser el resultado de un aumento de la expresión de las interleuquinas Th17 gluten-específicas. Objetivo: el objetivo de este estudio fue comparar la expresión de las interleuquinas Th17 en pacientes celiacos con peso normal y sobrepeso/obesidad. Métodos: se estudiaron 22 pacientes con reciente diagnóstico de enfermedad celiaca: 15 con peso normal y siete con sobrepeso/obesidad. Se tomaron biopsias de intestino delgado para la evaluación de la expresión de las interleuquinas a través de PCR a tiempo-real. Resultados: los niveles de expresión de las interleuquinas Th17 mostraron una tendencia a ser más altos en las biopsias de intestino de pacientes con sobrepeso/obesidad en comparación a los celiacos con peso normal, sin embargo, esta diferencia no fue significativa. Conclusión: el exceso de peso en pacientes celiacos no es influenciado por los niveles de expresión de interleuquinas Th17.

Background: Numerous studies have identified the role of Fat-mass-associated-gene (FTO) in the development of obesity. Aim: To investigate the association of FTO gene with adiposity markers in Chilean adults. Material and Methods: 409 participants were included in this cross-sectional study. The association between FTO (rs9939609) genotype and adiposity markers was determined using linear regression analyses. Adiposity markers included were: body weight, body mass index, fat mass, waist circumference, hip circumference and waist/hip ratio. Results: A fully adjusted model showed a significant association between FTO genotype and body weight (2.16 kg per each extra copy of the risk allele [95% confidence intervals (CI): 0.45 to 3.87], p = 0.014), body mass index (0.61 kg.m-2 [95% CI: 0.12 to 1.20], p = 0.050) and fat mass (1.14% [95% CI: 0.39 to 1.89], p = 0.010). The greater magnitude of association was found between the FTO gene and fat mass when the outcomes were standardized to z-score. Conclusions: This study confirms an association between the FTO gene and adiposity markers in Chilean adults, which is independent of major confounding factors.

ABSTRACT Objective The aim of this research was to analyze the expression profile of miR-155, miR-146a, and miR-326 in peripheral blood mononuclear cells (PBMC) of 47 patients with type 1 diabetes mellitus (T1D) and 39 control subjects, as well as the possible association with autoimmune or inflammatory markers. Subjects and methods Expression profile of miRs by means of qPCR using TaqMan probes. Autoantibodies and inflammatory markers by ELISA. Statistical analysis using bivariate correlation. Results The analysis of the results shows an increase in the expression of miR-155 in T1D patients in basal conditions compared to the controls (p < 0.001) and a decreased expression level of miR-326 (p < 0.01) and miR-146a (p < 0.05) compared T1D patients to the controls. miR-155 was the only miRs associated with autoinmmunity (ZnT8) and inflammatory status (vCAM). Conclusion Our data show a possible role of miR-155 related to autoimmunity and inflammation in Chilean patients with T1D.

Introduction: Children with cerebral palsy (CP) have an increased risk of vitamin D (VD) deficiency. Although there are many studies on VD and CP, there is limited information about VD supplementation in these patients. Objective: To evaluate the effect of supplementation with a single dose of VD on the plasma concentrations of 25-hydroxy-vitamin-D (25OHD) in children with CP. Patients and method: Prospective-randomised-controlled-trial, including 30 Chilean children (19 males) with CP, median age 9.9 years (6.2-13.5). Clinical and biochemical variables including 25OHD, were recorded (time 0 and 8 weeks). Patients were allocated to the supplemented (S) group receiving 100,000 IU oral D3 at baseline, and compared with the placebo (P) group. Results: Among clinical features are highlighted: gastrostomy (60%), underweight (30%), bedridden (93.3%), antiepileptic drugs (70%), and 43.3% used VD metabolism inducing antiepileptics. Baseline biochemical measurements were normal. The 25OHD was insufficient in 4/30 and deficient in 6/30. 25OHD levels were not associated with the variables studied. Eight patients completed the study in the S group, and 10 in P group. The placebo and supplementation groups had no significant difference in baseline variables. Serum calcium, phosphate, and alkaline phosphatase levels at 8 weeks were normal in both groups, with no statistically significant differences. 25OHD in the P group was normal in 6/10, and insufficient + deficient in 4/10, and the S group was normal in all (8/8) (exact Fisher test P = .07). Conclusions: A single dose of 100,000 IU VD could normalise the concentrations of 25OHD after 8 weeks of supplementation in Children with CP, but more studies are required to confirm these results.

Introducción: Los niños con parálisis cerebral (PC) tienen mayor riesgo de deficiencia de vitamina D (VD). Aunque existen bastantes estudios sobre VD en PC, hay limitada información sobre suplementación con VD en estos pacientes. Objetivo: Evaluar el efecto de la suplementación con VD en monodosis en las concentraciones plasmáticas de 25-hidroxi-vitamina-D (25OHD) en niños con PC. Pacientes y método: Estudio controlado, prospectivo y aleatorizado. Se estudiaron 30 niños chilenos (19 varones) con PC, mediana de edad de 9,9 años (6,2-13,5). Se registraron las variables clínicas y bioquímicas incluyendo 25OHD (tiempo 0 y 8 semanas). El grupo suplementado (S) recibió 100.000 UI D3 oral (tiempo 0), comparado con el grupo placebo (P). Resultados: Entre las características clínicas destaca: gastrostomizados (60%), desnutrición (30%), postración (93,3%), uso de antiepilépticos (70%) y uso de antiepilépticos inductores del metabolismo de VD (43,3%). Las mediciones basales de variables bioquímicas fueron normales. La 25OHD fue insuficiente en 4/30 y deficiente en 6/30. No hubo asociación de 25OHD con las variables estudiadas. Completaron el estudio 8 pacientes en el grupo S y 10 en el P. En ambos grupos no se observaron diferencias significativas en las variables basales. A las 8 semanas la calcemia, la fosfemia y la fosfatasa alcalina fueron normales en ambos grupos, la 25OHD en el grupo P fue normal en 6/10 e insuficiente + deficiente en 4/10 y normal en 8/8 en el grupo S (test exacto de Fisher, p = 0,07). Conclusiones: Una monodosis de 100.000 UI de VD podría normalizar las concentraciones de 25OHD en niños con PC. Se necesitan más estudios para confirmar estos resultados.

The prevalence of obesity in Chilean children has been increasing steadily for the last two decades. The first study to determine nutritional status and food intake in a representative sample of this population was carried out in 1960. Recently the National Food Consumption Survey (ENCA) carried out in 2012 was released by the Ministry of Health. However, this study did not include biochemical determinations of micronutrients which would allow a better diagnosis of nutritional status in children. Objective: to review the literature available from 2004 to 2014 in food intake and nutritional status in Chilean children aged 4 to 14 years. Method: a total of 362 references published between 2004 and 2014 were obtained through searches in the databases PubMed, Lilacs, Embase and Scielo. From these, 40 articles were selected for a thorough review. Results: food intake by children is characterized by a high-energy intake, a low consumption of fruits and vegetables and a high consumption of bread. The ENCA showed that 95% of the Chilean population has a deficient diet. A high prevalence of obesity is observed from very early in life. There is a dearth of data available on plasma indicators of vitamin and mineral status since 1960, which would provide more reliable information on nutritional assessment. Conclusion: It is imperative to implement a representative nutrition survey of children in Chile that includes biochemical indicators to get reliable information in order to develop strategies aimed to correct micronutrient malnutrition from excess or deficiency.

La prevalencia de obesidad en niños chilenos ha aumentado consistentemente en las últimas dos décadas. El primer estudio que determinó el estado nutricional y la ingesta de alimentos efectuado en una muestra representativa de la población fue llevado a cabo en 1960. Recientemente el Ministerio de Salud publicó la Encuesta Nacional de Consumo Alimentario (ENCA), efectuada en el año 2012. Sin embargo, este estudio no incluyó mediciones bioquímicas de nutrientes que permitan un diagnóstico integral y representativo de la condición nutricional del niño en Chile. Objetivos: revisar la literatura disponible entre los años 2004 y 2014 sobre ingesta de alimentos y estado nutricional en niños chilenos de 4 a 14 años de edad. Método: un total de 362 referencias publicadas en ese período se obtuvieron de las bases de datos PubMed, Lilacs, Embase y Scielo. De estos, 40 artículos fueron seleccionados para una revisión completa. Resultados: la ingesta de alimentos se caracteriza por una ingesta calórica alta; un bajo consumo de frutas, verduras y productos lácteos y un alto consumo de pan. La ENCA concluyó que un 95% de los chilenos presenta una dieta deficiente. Se observa una alta prevalencia de obesidad desde edades tempranas. Desde 1960 no ha habido un estudio representativo de la población que incluya niveles plasmáticos de micronutrientes, que proveerían información más confiable sobre el estado nutricional de los niños, además de encuestas de consumo de alimentos. Conclusión: los niños chilenos presentan un estado nutricional y una alimentación deficientes; sin embargo, no hay evidencia representativa de los niveles plasmáticos de nutrientes, por lo que es imperativo desarrollar un estudio representativo que incluya indicadores bioquímicos de micronutrientes con objeto de desarrollar estrategias para mejorar el estado nutricional de los niños.

Insulin autoimmune syndrome (IAS) is characterized by spontaneous hypoglycemia with extremely high insulin levels and the presence of circulating autoantibodies against insulin, in patients who have never been exposed to exogenous insulin. We report two patients with the syndrome. A 36 years old male presenting with hypoglycemia in the emergency room had an oral glucose tolerance test showed basal and 120 min glucose levels of 88 and 185 mg/dl. The basal and 120 min insulin levels were 2,759 and 5,942 μUI/ml. The presence of an insulin secreting tumor was discarded. Anti-insulin antibodies were positive. He was successfully treated with a diet restricted in carbohydrates and frequent meals in small quantities. A 65 years old female presenting with hypoglycemia in the emergency room had the fasting insulin levels of 1,910 µUI/ml. No insulin secreting tumor was detected by images and anti-insulin antibodies were positive. The polyethylene glycol precipitation test showed a basal and after exposition insulin level 1,483 and 114 µUI/ml, respectively. She responded partially to diet and acarbose and required the use of prednisone with a good clinical response.

Background: The worldwide rise in the incidence of Type 1 Diabetes (T1D), and the concordance rate between monozygotic twins (50%), indicate a strong effect of the environment as an underlying factor of this disease. This process can occur throughout epigenetic modifications of gene expression such as DNA methylation, in which several nutrients participate as cofactors. Aim: To determine DNA methylation status in T1D patients and if it is related to plasma levels of folates and homocysteine (Hcy). Material and Methods: We obtained blood samples from 25 T1D patients aged 13.7 ± 5.9 years (11 males) and 25 healthy subjects aged 31.1 ± 7.8 years (16 males). DNA methylation was measured using a colorimetric kit in extracted DNA. Results are expressed as median (interquartile range). Results: Compared with healthy controls, T1D patients had lower global DNA methylation (0.85 (0.91) % and 1.25 (1.16) % respectively, p < 0.02) and Hcy levels (4.8 (1.1) µmol/L and 7.3 (1.4) µmol/L respectively p < 0.01). There were no differences in folate levels between groups. A significant association between folates and global DNA methylation status was observed in T1D patients (r = -0.564, p < 0.01) and healthy subjects (r = 0.440, p = 0.03). Conclusions: TD1 patients had lower levels of Hcy and global DNA methylation. It is relevant to further investigate if this imbalance also induces epigenetic changes in a gene-specific manner, especially in key genes involved in T1D pathogenesis.

Background: Metabolic Syndrome (MS) increases the risk of diabetes and mortality associated with cardiovascular disease. However, the prevalence of MS could differ by ethnicity and lifestyle factors. Aim: To determine the prevalence of MS in Mapuche individuals living in urban and rural environments in Chile and to investigate whether the prevalence and risk of MS in urban and rural environments differs by sex, age and nutritional status. Material and Methods: A total of 1077 Mapuche participants were recruited from urban (MU = 288) and rural (MR = 789) settings. Body mass index, waist circumference and blood pressure were measured. A fasting blood sample was obtained to measure serum glucose, HDL cholesterol and triacylglycerol. The prevalence of MS was determined using the unified IDF and ATP-III criteria. Results: An environment and sex interaction was found for the prevalence of MS (p = 0.042). The prevalence was significantly lower in male MR (13%) compared to other groups (22, 23 and 25% among female MR, female MU and male MU respectively). Also, the prevalence of central obesity and low HDL-cholesterol were significantly lower in male MR. MU are at an increased risk of developing MS compared to MR, with an odds ratio of 1.59 (95% confidence intervals 1.1 to 2.2). This risk increases along with age or body mass index of the population. Conclusions: The adoption of an urbanized lifestyle increases the risk of developing MS in Mapuche individuals. This risk is enhanced by age and nutritional status.

This article summarizes recent findings on the role of microRNAs (miRNAs) in biological processes associated with the regulation of chronic inflammation and autoimmunity. miRNAs are small non-coding RNA molecules that have been recently emerged as a new class of modulators of gene expression at the post-transcriptional level. MiRNAs bind to complementary sequences of specific targets of messengers RNA, which can interfere with protein synthesis. We reviewed studies that evaluated the expression patterns of miRNAs in different autoimmune diseases, especially in celiac disease (CD). CD is a chronic enteropathy triggered by gluten proteins, characterized by altered immune responses in genetically susceptible individuals that results in damage to the bowel mucosa. CD has a high prevalence and an effective treatment by a specific diet ("gluten free diet"). Genetic factors confer susceptibility but do not explain the whole disease, suggesting that environmental factors do play a relevant role in the development of the condition. The evaluation of the potential role of miRNA is of particular interest in CD given that these epigenetic mechanisms in the pathogenesis of autoimmune and inflammatory diseases have been recently described. Improving our understanding of miRNAs in CD will contribute to clarify the role of altered epigenetic regulation in the development and course of this disease.

Este artículo pone al día los conceptos básicos de la enfermedad celiaca (EC) y resume los hallazgos sobre los microRNAs (miRNAs) en procesos biológicos asociados a la regulación de la inflamación crónica y autoinmunidad. Los miRNAs, una nueva clase de moduladores de la expresión génica a nivel post-traduccional, son moléculas de RNA pequeñas y no codificables que se unen a secuencias complementarias de RNAs mensajeros específicos, que pueden interferir con la síntesis de proteínas. Se revisaron los estudios publicados que evaluaron los patrones de expresión de miRNAs en diferentes Enfermedades Autoinmunes (EAI) y especialmente en la EC. La EC es una enteropatía crónica del intestino delgado provocada por proteínas del gluten, caracterizada por una respuesta inmune alterada en individuos genéticamente susceptibles, que se traduce en daño de la mucosa del intestino delgado. Esta enfermedad tiene una alta prevalencia y un tratamiento efectivo a través de una dieta libre de gluten. En la patogenia de esta enfermedad se ha demostrado que factores genéticos otorgan susceptibilidad, pero no explican el total de los casos. El estudio de la función de los miRNA es de particular interés en la EC, dado que este mecanismo epigenético ha sido recientemente descrito en la patogenia de las EAI e inflamatorias. El estudio de los miRNA en la EC contribuirá a dilucidar cómo alteraciones en la regulación epigenética participarían en el desarrollo y evolución de esta enfermedad.

Background: Sunlight exposure is the main factor for adequate vitamin D (VitD) nutrition; in extreme latitudes there is an increased riskfor its deficiency. Aim: To study VitD nutritional status in pre-school children living in austral latitudes of Chile. Subjects and Methods: A blood sample was obtained from 60 pre-school healthy children (aged 2 to 5years, 24 males), attending to public day-care centers in Coyhaique (45° 35' S), during March (time 1) and September (time 2). 250HD, parathyroid hormone (PTH), calcium, phosphate and alkaline phosphatases (PA) were measured. Information about weather conditions during three months prior to the sample withdrawal was gathered. Results: Forty nine percent of children had a normal weight and 11% were overweight. Vive children with unreliable 250HD levels were excluded from analysis. At time 1, 250HD levels were 21.6 ± 14.5 ngl mh (7.9-71.1). Sixty four percent of children had valúes < 20 ng/mL (deficiency). At time 2, the figures were 21.5 ± 13.2 ng/mL (9.4-68.5) and 67.3% of children were deficient. PTH, serum calcium, phosphate and PA were normal. Prior to time 1, the UVradiation Índex (UVI) was high to extreme (91.3%), with 3.3 and 73% ofsunny and cloudy days, respectively. Mean minimal and maximal temperatures were 7 and 17.3°C respectively. Prior to time 2 the IUVwas low in 100%) ofdays; with 15.2 and 60.9 ofsunny and cloudy days, respectively. Mean minimal and maximal temperatures were 0.3 and 6.7°C respectively. No association of250HD with the other metabolicparameters was found. Conclusions: Chilean pre-school children living in austral latitudes have a high rate of vitamin D deficiency, throughout theyear, with no association with PTH, calcium, phosphate or PA. Further research is required to study vitamin D deficiency in other latitudes and magnitude of sunlight exposure.

Introduction: the MYO9B gene contributes to the maintenance of the intestinal barrier and it has been postulated as a risk factor of celiac disease (CD). The objective of this study was to compare the frequency and association rs2305764, rs2305767and rs1457092 MYO09B polymorphisms in pediatric CD patients from Chile and Argentina. Patients and methods: the study was made in 104 CD pediatric patients (Chilean and Argentineans) and 104 controls subjects. MYO9B gene polymorphisms were analyzed by Taqman allelic probes. We evaluated the Hardy-Weinberg equilibrium by means of Chi-square and compared the haplotypes distribution using Fisher test. Results: SNPs rs2305767 and rs1457092 were associated with celiac disease (CD); TT genotype in rs2305767 would be a protective factor (p < 0.000, OR = 0.19 CI 0.1-0.4) and the CT genotype would be a risk factor (p < 0.0001, OR = 4.9 CI 2.2 to 11.3). CC genotype in rs1457092 also showed a protective effect for celiac (p < 0.000, OR = 0.07 CI 0.0 to 0.3). Conclusion: our findings suggest that genetic variation MYO9B gene is associated with CD, as a protective or a risk factor depending on the polymorphism studied.

Introducción: el gen miosina IX B (MYO9B) participa en el mantenimiento de la barrera intestinal y se postula que puede aportar riesgo para desarrollar enfermedad celiaca (EC). El objetivo de este estudio fue comparar la frecuencia y la asociación de los polimorfismos rs 2305764, rs 2305767 y rs 1457092 del gen MYO9B en pacientes pediátricos con EC procedentes de Chile y Argentina. Pacientes y métodos: el estudio se realizó en 104 pacientes pediátricos con EC (chilenos y argentinos) y en 104 sujetos controles. El análisis de los polimorfismos del gen MYO9B se realizó mediante ensayos Taqman de discriminación alélica. Se evalúo equilibrio de Hardy-Weinberg mediante Chi-cuadrado y comparación de haplotipos según prueba de Fisher. Resultados: los polimorfismos de un solo nucleótido (SNPs) rs2305767 y rs1457092 mostraron asociación con la EC. El genotipo TT del rs2305767 sería un factor protector (p < 0,0001, OR = 0,19 IC 0,1-0,4) mientras que el genotipo CT sería un factor de riesgo (p < 0,0001, OR = 4,9 IC 2,2-11,3). En el rs1457092, el genotipo CC resultó también un factor protector frente a esta enfermedad (p < 0,0001, OR = 0,07 IC 0,0-0,3). Conclusión: nuestros hallazgos sugieren que la variación genética del gen MYO9B estaría asociada a la EC en este grupo de pacientes, constituyendo un factor tanto de protección como a susceptibilidad dependiendo del polimorfismo en cuestión.