RESUMO
Background: Familial hypercholesterolemia (FH) is commonly associated with mutations in-LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). Aim: To identify genetic variants associated with FH in a population of children and adolescents with hypercholesterolemia or a family history of-demonstrated early CVD. Material and Methods: Clinical and biochemical parameters were evaluated, and nine genes related to FH were sequenced namely LDLR, APOB, PCSK9, LDLRAP1, LIPA, APOE, ABCG5, ABCG8 and STAP1, in 55 children and adolescents aged 1 to 18 years old, from non-consanguineous families. Results: Mutations associated with FH were found in 17 children and adolescents, corresponding to p.Asp47Asn, duplication of exons 13-15 and p.Ser326Cys of the LDLR gene; p.Glu204* and Ile268Met of the APOE gene. Thirteen patients were heterozygous, two homozygous, two compound heterozygous, and one double heterozygous. Conclusions: Children and adolescents carrying mutations associated with FH were found by selective screening, which constitutes the first stage in the identification of genetic variants in our country.
Assuntos
Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Pró-Proteína Convertase 9/genética , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/genética , Hiperlipoproteinemia Tipo II/epidemiologia , Chile , MutaçãoRESUMO
BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder mainly caused by mutations in the LDL receptor (LDL-R) and characterized by elevation of low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease. OBJECTIVE: In this study, we evaluated the clinical phenotype of the p.Asp47Asn, described as an uncertain pathogenic variant, and its effect on the structure of LDL-R and ligand interactions with apolipoproteins. METHODS: 27 children and adolescents with suspected FH diagnosis were recruited from a pediatric endocrinology outpatient clinic. Blood samples were collected after 12 h fasting for lipid profile analysis. DNA sequencing was performed for six FH-related genes by Ion Torrent PGM platform and copy number variation by MLPA. For index cases, a familial cascade screening was done restricted to the same mutation found in the index case. In silico analysis were developed to evaluate the binding capacity of LDL-R to apolipoproteins B100 and E. RESULTS: Lipid profile in children and adolescents demonstrated higher LDL-C levels in p.Asp47Asn carriers compared to the wild type genotype. In silico analysis predicted a reduction in the binding capacity of the ligand-binding modules LA1-2 of p.Asp47Asn LDL-R for ApoB100 and ApoE, which was not produced by local structural changes or folding defects but as a consequence of a decreased apparent affinity for both apolipoproteins. CONCLUSION: The clinical phenotype and the structural effects of p.Asp47Asn LDL-R mutation suggest that this variant associates to FH.
Assuntos
Variações do Número de Cópias de DNA , Hiperlipoproteinemia Tipo II , Adolescente , Adulto , Humanos , Fenótipo , Receptores de LDLRESUMO
BACKGROUND: Familial hypercholesterolemia (FH) is commonly associated with mutations in-LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). AIM: To identify genetic variants associated with FH in a population of children and adolescents with hypercholesterolemia or a family history of-demonstrated early CVD. MATERIAL AND METHODS: Clinical and biochemical parameters were evaluated, and nine genes related to FH were sequenced namely LDLR, APOB, PCSK9, LDLRAP1, LIPA, APOE, ABCG5, ABCG8 and STAP1, in 55 children and adolescents aged 1 to 18 years old, from non-consanguineous families. RESULTS: Mutations associated with FH were found in 17 children and adolescents, corresponding to p.Asp47Asn, duplication of exons 13-15 and p.Ser326Cys of the LDLR gene; p.Glu204* and Ile268Met of the APOE gene. Thirteen patients were heterozygous, two homozygous, two compound heterozygous, and one double heterozygous. CONCLUSIONS: Children and adolescents carrying mutations associated with FH were found by selective screening, which constitutes the first stage in the identification of genetic variants in our country.
Assuntos
Hiperlipoproteinemia Tipo II , Pró-Proteína Convertase 9 , Adolescente , Criança , Pré-Escolar , Chile , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/genética , Lactente , Mutação , Pró-Proteína Convertase 9/genéticaRESUMO
OBJECTIVE: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. Approach and Results: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.8 years, 38.0% males), and 63 children (age 8.8±4.0 years, 50.8% males) were studied. Genetic characterization was available in 129 (96%). The majority (91%) were true homozygotes (true HoFH, n=79, 43.0% children, 46.8% males) or compound heterozygotes (compound heterozygous familial hypercholesterolemia, n=39, 51.3% children, 46.2% males) with putative pathogenic variants in the LDLR. True HoFH due to LDLR variants had higher total (P=0.015) and LDL (low-density lipoprotein)-cholesterol (P=0.008) compared with compound heterozygous familial hypercholesterolemia. Children with true HoFH (n=34) tended to be diagnosed earlier (P=0.051) and had a greater frequency of xanthomas (P=0.016) than those with compound heterozygous familial hypercholesterolemia (n=20). Previous major cardiovascular events were present in 25 (48%) of 52 children (missing information in 2 cases), and in 43 (67%) of 64 adults with LDLR variants. Children who are true HoFH had higher frequency of major cardiovascular events (P=0.02), coronary heart (P=0.013), and aortic/supra-aortic valve diseases (P=0.022) than compound heterozygous familial hypercholesterolemia. In adults, no differences were observed in major cardiovascular events according to type of LDLR variant. From 118 subjects with LDLR variants, 76 (64%) had 2 likely pathogenic or pathogenic variants. In 89 subjects with 2 LDLR variants, those with at least one null allele were younger (P=0.003) and had a greater frequency of major cardiovascular events (P=0.038) occurring at an earlier age (P=0.001). CONCLUSIONS: There was a high frequency of cardiovascular disease even in children. Phenotype and cardiovascular complications were heterogeneous and associated with the type of molecular defect.
Assuntos
Doenças Cardiovasculares/epidemiologia , LDL-Colesterol/sangue , Homozigoto , Hiperlipoproteinemia Tipo II/genética , Mutação , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Adulto , Fatores Etários , Apolipoproteína B-100/genética , Biomarcadores/sangue , Doenças Cardiovasculares/diagnóstico , Criança , Pré-Escolar , Estudos Transversais , Europa (Continente)/epidemiologia , Feminino , Predisposição Genética para Doença , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/epidemiologia , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Fenótipo , Pró-Proteína Convertase 9/genética , Receptores de LDL/genética , Estudos Retrospectivos , Fatores de Risco , América do Sul/epidemiologia , Adulto JovemRESUMO
BACKGROUND: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America. RESULTS: From a conservative estimation of an FH prevalence of 1 of 500 individuals, there should be 1.2 million heterozygous FH individuals in Ibero-America and roughly 27,400 were diagnosed so far. Only Spain, Brazil, Portugal, and Uruguay have active cascade screening programs. The prevalence of cardiovascular disease ranged from 10% to 42% in member countries, and the highest molecular identification rates are seen in Spain, 8.3%, followed by Portugal, 3.8%, and Uruguay with 2.5%. In the 3 countries with more FH patients identified (Spain, Portugal, and Brazil) between 10 and 15 mutations are responsible for 30% to 47% of all FH cases. Spain and Portugal share 5 of the 10 most common mutations (4 in low density lipoprotein receptor [LDLR] and the APOB3527). Spain and Spanish-speaking Latin American countries share 6 of the most common LDLR mutations and the APOB3527. LDL apheresis is available only in Spain and Portugal and not all countries have specific FH diagnostic and treatment guidelines as well as patient organizations. CONCLUSIONS: Ibero-American countries share similar mutations and gaps in FH care.
Assuntos
Hiperlipoproteinemia Tipo II/epidemiologia , Doenças Cardiovasculares/complicações , Humanos , Hiperlipoproteinemia Tipo II/complicações , Portugal/epidemiologia , América do Sul/epidemiologia , Espanha/epidemiologiaRESUMO
BACKGROUND: Yale University's Bright Bodies Program consists on a lifestyle intervention, in areas such as nutrition and exercise, while focusing on behavior modification and family support. AIM: To evaluate the impact of the Program in Chilean children and adolescents with obesity who participated in the Program during 8 months. MATERIAL AND METHODS: The weight management Program was carried out during 8 months and consisted in weekly sessions directed by dietitians or psychologists and exercise sessions twice per week in charge of physical education teachers. The family component was based on sessions for parents or caregivers to achieve the same goals of children activities. RESULTS: Twenty eight obese children aged 9.5 ± 2 years completed the eight months of intervention. There was a significant 5% reduction of body mass index (BMI), a 15% reduction of BMI z score and a 2.9% reduction of waist circumference. Bioelectrical impedance showed a 9% reduction of percentage body fat and a 7% increase in lean body mass. Blood pressure, blood glucose, total and LDL cholesterol and triglycerides decreased significantly, without changes in HOMA-IR. The frequency of metabolic syndrome decreased from 36% at baseline to 18% at the end of the intervention. A 43% reduction in caloric intake and an improvement in physical condition was also observed. CONCLUSIONS: The Bright Bodies Program produced significant and positive changes on anthropometric and metabolic parameters in this group of children.
Assuntos
Comportamento Alimentar/fisiologia , Obesidade/epidemiologia , Avaliação de Programas e Projetos de Saúde , Adolescente , Metabolismo Basal/fisiologia , Terapia Comportamental/métodos , Glicemia/análise , Índice de Massa Corporal , Criança , Chile/epidemiologia , LDL-Colesterol/sangue , Exercício Físico/fisiologia , Família/psicologia , Feminino , Humanos , Masculino , Síndrome Metabólica/epidemiologia , Sobrepeso/epidemiologia , Condicionamento Físico Humano/métodos , Circunferência da Cintura/fisiologiaRESUMO
Background: Yale University’s Bright Bodies Program consists on a lifestyle intervention, in areas such as nutrition and exercise, while focusing on behavior modification and family support. Aim: To evaluate the impact of the Program in Chilean children and adolescents with obesity who participated in the Program during 8 months. Material and Methods: The weight management Program was carried out during 8 months and consisted in weekly sessions directed by dietitians or psychologists and exercise sessions twice per week in charge of physical education teachers. The family component was based on sessions for parents or caregivers to achieve the same goals of children activities. Results: Twenty eight obese children aged 9.5 ± 2 years completed the eight months of intervention. There was a significant 5% reduction of body mass index (BMI), a 15% reduction of BMI z score and a 2.9% reduction of waist circumference. Bioelectrical impedance showed a 9% reduction of percentage body fat and a 7% increase in lean body mass. Blood pressure, blood glucose, total and LDL cholesterol and triglycerides decreased significantly, without changes in HOMA-IR. The frequency of metabolic syndrome decreased from 36% at baseline to 18% at the end of the intervention. A 43% reduction in caloric intake and an improvement in physical condition was also observed. Conclusions: The Bright Bodies Program produced significant and positive changes on anthropometric and metabolic parameters in this group of children.
Assuntos
Adolescente , Criança , Feminino , Humanos , Masculino , Comportamento Alimentar/fisiologia , Obesidade/epidemiologia , Avaliação de Programas e Projetos de Saúde , Metabolismo Basal/fisiologia , Terapia Comportamental/métodos , Glicemia/análise , Índice de Massa Corporal , Chile/epidemiologia , LDL-Colesterol/sangue , Exercício Físico/fisiologia , Família/psicologia , Síndrome Metabólica/epidemiologia , Sobrepeso/epidemiologia , Condicionamento Físico Humano/métodos , Circunferência da Cintura/fisiologiaRESUMO
The presence of A allele in FTO gene is associated with a higher risk of obesity. Aim: to investigate the effect of neonatal nutritional status on the association between FTO gene rs9939609 variant and obesity in a cohort of Chilean children with Amerindian ancestry. Material and Methods: using birth registries, the neonatal ponderal index of 238 obese and 136 normal weight children was calculated. Nutritional status of participants was determined using cutoff points proposed by the Center for Disease Control. FTO polymorphism was measured by real time polymerase chain reaction. Results: the presence of FTO A allele was associated with a higher risk of obesity (odds ratio (OR) 1.87 95 percent confidence intervals (CI) 1.14-3.06, p < 0.01). The effect of this allele was only significant among males. The risk of obesity associated with A allele presence was non-significantly higher among males with a neonatal ponderal index below percentile 10, as compared with their counterparts with a neonatal ponderal index above this value (OR 5.65 95 percent CI 0.87-60.4). A logistic regression analyzing the presence of A allele as a risk factor for obesity using neonatal nutritional status and gender as control variables, did not substantially change the results. Conclusions: there is a non-significant effect of neonatal undernutrition on the risk of obesity conferred by the presence of A allele of FTO gene...
Assuntos
Humanos , Masculino , Feminino , Criança , Estado Nutricional , Obesidade Infantil/genética , Polimorfismo Genético , Índice de Massa Corporal , Chile , Estudos de Associação Genética , Indígenas Sul-Americanos , Obesidade Infantil/epidemiologia , Proteínas/genética , Fatores SexuaisRESUMO
Background: Neonatal malnutrition defined by birth weight (BW) is a risk factor for obesity and cardio-metabolic diseases in adults. Neonatal ponderal index (NPI) may have better diagnostic value than BW to establish nutritional status. Aim: To determine the effect of neonatal nutritional status, established by the three NPI curves available in Chile, on the risk of Metabolic Syndrome (MS) in obese school children. Material and Methods: A nested case/control study in a sample of 410 obese school children aged 10 to 16 years (57% males) was performed. The dichotomous response variable was the presence of MS defined as International Diabetes Federation (IDF) or Cook’s criteria. The exposure variable was having NPI < percentile (p) 10. Results: The frequency of MS was 36 and 39% according to the IDF and Cook criteria, respectively. The proportion of children with neonatal malnutrition exceeded 20%. A significantly increased risk for MS was only found when PNI was defined according to Lagos´s Table and MS was defined using IDF criteria. Having a PNI > p90, however, showed a trend towards a reduced risk of MS, which only reached significance using Lagos´s Table and Cook´s Criteria. Conclusions: Neonatal malnutrition defined by NPI is common in obese school children. The condition of neonatal under nutrition defined as PNI < p10 may be a risk factor for developing MS. Instead, having a NPI > p90 could be protective.
Assuntos
Adolescente , Criança , Feminino , Humanos , Recém-Nascido , Masculino , Desnutrição/complicações , Síndrome Metabólica/etiologia , Estado Nutricional , Obesidade/complicações , Fatores Etários , Peso ao Nascer , Índice de Massa Corporal , Estudos de Casos e Controles , Chile , Estudos de Coortes , Desnutrição/diagnóstico , Síndrome Metabólica/diagnóstico , Obesidade/diagnóstico , Fatores de RiscoRESUMO
OBJECTIVE: Obesity is characterized by increased levels of plasma free fatty acids (FFAs) that interfere with insulin signaling. The aim of our study was to assess the FFA profile in obese children and adolescents and to determine their relation with different degrees of insulin resistance. METHODS: A transversal study was conducted of 51 children and adolescents (mean age, 11.7±1.6 years; 47% males) with obesity (body mass index ≥95 percentile). Anthropometric, clinical, and biochemical parameters were assessed. Insulin resistance was determined using the homeostasis model assessment of insulin resistance (HOMA-IR) index. Plasma fatty acids were quantified by high-performance liquid chromatography with heptadecanoic acid as the internal standard. RESULTS: The mean concentration of myristic acid, linoleic acid, palmitic acid, oleic acid, stearic acid, and total fatty acids was 9.3±2.2, 86.5±38.3, 93.0±35.5, 177.0±83.6, 48.5±14.9, and 414.3±160.9 µmol/L, respectively. Total fatty acids and unsaturated fatty acids such as oleic acid and linoleic acid showed an inverse significant correlation with insulin resistance. Children with high insulin resistance (HOMA-IR >2.5) showed a decrease in unsaturated fatty acids compared with children having a HOMA-IR of <2.5. There were no changes in saturated fatty acid concentrations between those groups. CONCLUSIONS: A decrease in unsaturated fatty acids was correlated with insulin resistance in childhood obesity.
Assuntos
Ácidos Graxos Insaturados/metabolismo , Resistência à Insulina , Obesidade Infantil/metabolismo , Adolescente , Antropometria , Índice de Massa Corporal , Criança , Ácidos Graxos não Esterificados/sangue , Feminino , Humanos , Masculino , Síndrome Metabólica/metabolismoRESUMO
BACKGROUND: Neonatal malnutrition defined by birth weight (BW) is a risk factor for obesity and cardio-metabolic diseases in adults. Neonatal ponderal index (NPI) may have better diagnostic value than BW to establish nutritional status. AIM: To determine the effect of neonatal nutritional status, established by the three NPI curves available in Chile, on the risk of Metabolic Syndrome (MS) in obese school children. MATERIAL AND METHODS: A nested case/control study in a sample of 410 obese school children aged 10 to 16 years (57% males) was performed. The dichotomous response variable was the presence of MS defined as International Diabetes Federation (IDF) or Cook's criteria. The exposure variable was having NPI < percentile (p) 10. RESULTS: The frequency of MS was 36 and 39% according to the IDF and Cook criteria, respectively. The proportion of children with neonatal malnutrition exceeded 20%. A significantly increased risk for MS was only found when PNI was defined according to Lagos's Table and MS was defined using IDF criteria. Having a PNI > p90, however, showed a trend towards a reduced risk of MS, which only reached significance using Lagos's Table and Cook's Criteria. CONCLUSIONS: Neonatal malnutrition defined by NPI is common in obese school children. The condition of neonatal under nutrition defined as PNI < p10 may be a risk factor for developing MS. Instead, having a NPI > p90 could be protective.
Assuntos
Desnutrição/complicações , Síndrome Metabólica/etiologia , Estado Nutricional , Obesidade/complicações , Adolescente , Fatores Etários , Peso ao Nascer , Índice de Massa Corporal , Estudos de Casos e Controles , Criança , Chile , Estudos de Coortes , Feminino , Humanos , Recém-Nascido , Masculino , Desnutrição/diagnóstico , Síndrome Metabólica/diagnóstico , Obesidade/diagnóstico , Fatores de RiscoRESUMO
BACKGROUND: A high prevalence of hyperandrogenism has been reported in women with type 1 diabetes (T1D). Metformin has been used as a therapeutic agent in patients with polycystic ovarian syndrome and in T1D patients without hyperandrogenism. This study sought to determine the effect of metformin on hyperandrogenism and ovarian function in adolescents with T1D. METHODS: We recruited 24 girls with T1D. The participants had hyperandrogenism and displayed suboptimal metabolic control. The patients were enrolled in a randomized, double-blind, placebo-controlled trial. One group received metformin (850 mg bid) and the other group received a placebo. Treatment was administered for 9 months. Ovulation, steroids and gonadotropin levels were evaluated. RESULTS: Metformin treatment was associated with decreases in testosterone, free androgen index, androstenedione, 17-OH progesterone and estradiol levels. The girls who were treated with placebo showed stable steroid, gonadotropin and sex hormone-binding globulin levels during the analysis. No differences were observed in the Ferriman-Gallwey scores, ovulation rates, HbA1c levels or daily insulin doses of the girls treated with metformin compared with the placebo group. CONCLUSION: Treating hyperandrogenic T1D adolescents with metformin significantly decreased the serum androgens compared to the placebo, but metformin therapy did not significantly affect clinical parameters, such as hirsutism, ovulation and metabolic control.
Assuntos
Complicações do Diabetes/tratamento farmacológico , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hiperandrogenismo/tratamento farmacológico , Hipoglicemiantes/administração & dosagem , Metformina/administração & dosagem , 17-alfa-Hidroxiprogesterona/sangue , Adolescente , Adulto , Androsterona/sangue , Complicações do Diabetes/sangue , Complicações do Diabetes/fisiopatologia , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/fisiopatologia , Método Duplo-Cego , Feminino , Gonadotropinas/sangue , Humanos , Hiperandrogenismo/sangue , Hiperandrogenismo/etiologia , Hiperandrogenismo/fisiopatologia , Ovulação/sangue , Ovulação/efeitos dos fármacosRESUMO
AIM: To compare pubertal development in age-matched healthy girls born with low birth weight (LBW) or appropriate birth weight for gestational age (AGA). SUBJECTS AND METHODS: Girls with breast in Tanner stage II and normal body mass index were followed for 3 years with a complete physical exam, bone age, pelvic ultrasound, and measurement of gonadal hormones using a leuprolide test. RESULTS: Forty-one girls (AGA 25/LBW 16) were followed up for 3 years. By 3 years, they had similar bone age, adjusted height, and body composition. In LBW girls, breast Tanner stage advanced faster during the first 2 years of follow-up, which was associated with higher serum androgens. Hirsutism score, ovarian volume, and number of follicles between AGA and LBW were not different nor was age of menarche. By the third year, basal and poststimulated levels of gonadotropins and androgens anti-Müllerian hormone and inhibin B were similar in both groups and did not show differences related to birth weight or degree of catch-up growth. CONCLUSION: LBW recruits showed a slightly faster breast development but no differences in androgen excess signs, internal genitalia, and gonadal hormonal patterns.
Assuntos
Recém-Nascido de Baixo Peso/fisiologia , Ovário/crescimento & desenvolvimento , Ovário/fisiologia , Puberdade/fisiologia , Androgênios/sangue , Hormônio Antimülleriano/sangue , Peso ao Nascer/fisiologia , Mama/crescimento & desenvolvimento , Criança , Pré-Escolar , Feminino , Seguimentos , Hormônios Esteroides Gonadais/sangue , Gonadotropinas/sangue , Humanos , Recém-Nascido , Inibinas/sangue , Estimativa de Kaplan-Meier , Menarca/fisiologia , Estudos ProspectivosRESUMO
Background: Several genetic polymorphisms of adiponectin have been associated to metabolic diseases as obesity and co-morbidities. Aim: To investigate if there are associations between +45TG, +276GT, -11,377CG y -11,391GA adiponectin SNPs (single nucleotide polymorphism) with obesity in a Chilean children population. Material and Methods: A case-control study was performed in 241 obese and 126 normal weight children (7-11 years old) from the urban community of Hualpén, Biobío region. Children were classified as normal or obese, according to age and gender-specificpercentiles defined by Centerfor Disease Control and Prevention (CDC). The analysis of serum markers was carried out using commercial kits. Adiponectin polymorphisms were determined through a High Resolution Melting (HRM)-enabled real time PCR and by DNA fragment sequencing. Results: The observed allelic frequencies of the studied SNPs were over 11%. The 11,377CG polymorphism was associated with a high risk of obesity, calculated by the additive inheritance model (odds ratio = 1.389, 95% confidence interval: 1.001-1.929,p = 0.049). Conclusions: Obese school children of the Biobío Region, have an increased risk of carrying the susceptibility allele polymorphism 11377CG of adiponectin gene.
Assuntos
Criança , Feminino , Humanos , Adiponectina/genética , Estado Nutricional/fisiologia , Obesidade/genética , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , Chile , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Razão de Chances , Fatores de RiscoRESUMO
OBJECTIVE: The objective of this study was to investigate the allelic frequency of the fat mass and obesity-associated (FTO) gene (rs9939609) and its influences on obesity and metabolic risk biomarkers in a cohort of normal weight and obese Chilean children determining its ethnicity. METHODS: A total of 136 normal weight children and 238 obese children (between 6 and 11 yr old) from an urban setting were recruited for this case-control study. The children were classified as normal weight [body mass index (BMI) ≥ 5th and < 85th percentiles] or obese (BMI >95th percentile), according to the international age- and gender-specific percentiles defined by the Center for Disease Control and Prevention. The analysis of serum markers was carried out using commercial kits. The FTO polymorphism was determined through a high-resolution melting enabled real time polymerase chain reaction. Ethnicity was determined by analyzing mitochondrial DNA by the restriction fragment length polymorphism method. RESULTS: As much as 85% of the cohort was Amerindian. The minor A allele of rs9939609 was associated with obesity (odds ratio (OR): 1.422 [95% confidence interval (CI) 1.068-1.868] p = 0.015), calculated using an additive model. In sex-stratified analysis we found that the risk variant (A) of rs9939609 was associated with a higher homeostasis model of assessment for insulin (HOMA-IR) in prepubertal obese girls. In male carriers of the A allele, HOMA-IR showed no further deterioration than that already associated with obesity. CONCLUSIONS: In summary, we confirm the association of the FTO gene single-nucleotide polymorphism rs9939609 with obesity in Chilean Amerindian children. Furthermore we show an association between the risk allele (A) and insulin resistance-related markers in prepubertal obese girls.
Assuntos
Indígenas Sul-Americanos/genética , Resistência à Insulina/genética , Obesidade/genética , Proteínas/genética , Dioxigenase FTO Dependente de alfa-Cetoglutarato , Estudos de Casos e Controles , Criança , Chile , Feminino , Homeostase , Humanos , Modelos BiológicosRESUMO
BACKGROUND: Several genetic polymorphisms of adiponectin have been associated to metabolic diseases as obesity and co-morbidities. AIM: To investigate if there are associations between +45TG, +276GT, -11,377CG y -11,391GA adiponectin SNPs (single nucleotide polymorphism) with obesity in a Chilean children population. MATERIAL AND METHODS: A case-control study was performed in 241 obese and 126 normal weight children (7-11 years old) from the urban community of Hualpén, Biobío region. Children were classified as normal or obese, according to age and gender-specificpercentiles defined by Centerfor Disease Control and Prevention (CDC). The analysis of serum markers was carried out using commercial kits. Adiponectin polymorphisms were determined through a High Resolution Melting (HRM)-enabled real time PCR and by DNA fragment sequencing. RESULTS: The observed allelic frequencies of the studied SNPs were over 11%. The 11,377CG polymorphism was associated with a high risk of obesity, calculated by the additive inheritance model (odds ratio = 1.389, 95% confidence interval: 1.001-1.929,p = 0.049). CONCLUSIONS: Obese school children of the Biobío Region, have an increased risk of carrying the susceptibility allele polymorphism 11377CG of adiponectin gene.
Assuntos
Adiponectina/genética , Estado Nutricional/fisiologia , Obesidade/genética , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , Criança , Chile , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Razão de Chances , Fatores de RiscoRESUMO
Background: The frequency of obesity is increasing steadily in Chile. Aim: To assess the prevalence of obesity and overweight in children and teenagers living in three southern Chilean cities. Material and Methods: The database of an evaluation performed in 2006 in schools, was used to obtain weight and height of 32514 subjects aged 12 ± 4 years (48 percent males). Criteria proposed by the International Obesity Task Force (IOTF) and the Centers for Disease Control (CDC) were used to define obesity and overweight. Results: According to CDC criteria the prevalence of overweight and obesity was 11.2 percent and 6.5 percent, respectively. According to IOTF criteria, the fgures were 13.2 and 4 percent, respectively. The higher frequency of overweight and obesity was observed among children aged less than eight years. Conclusions: There is a high frequency of obesity and overweight in the studied sample.
Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Obesidade/epidemiologia , Chile/epidemiologia , Modelos Logísticos , Sobrepeso/epidemiologia , Prevalência , Valores de Referência , Fatores de Risco , Instituições AcadêmicasRESUMO
Childhood and adolescent obesity is highly prevalent and a relevant public health problem in Chile. Metabolic syndrome (MS), which is predictive of future cardiovascular disease and type 2 diabetes, has been associated with childhood obesity and insulin resistance. The aim of this study was to determine the prevalence of MS in a non-consultant obese adolescent population and to assess the underlying factors for the MS in these subjects. The nutritional status was evaluated for 25,102 students from 10 to 18 years of age living in Concepcin and Coronel, Chile. A total of 2,308 adolescents were found to be obese (BMI > or = 95 percentile). Metabolic syndrome was defined as the presence of at least three of the following abnormalities: waist circumference > or = 90th percentile, blood pressure > or= 90th percentile, fasting glycaemia > or = 100 mg/dL, HDL-cholesterol < or = 40 mg/dL and triglycerides > or = 110 mg/dL in a representative sample of 461 adolescents. The results obtained indicate that the prevalence of obesity was 9.2% and that MS reached 37.5%. Only 4.1% of the adolescents failed to present any of the risk factors for MS. When compared with the adolescents without MS, the estimated odd ratios (OR) for the presence of the characteristics of MS were all statistically significant, with increased waist circumference reaching an OR of 21.56. A significant difference was found between adolescents with and without MS; the parameters indicated greater insulin resistance for adolescents with MS. In conclusion, MS is highly prevalent among Chilean adolescents with obesity and its prevention beginning in childhood needs to be addressed.
Assuntos
Síndrome Metabólica/epidemiologia , Obesidade/epidemiologia , Adolescente , Pressão Sanguínea , Índice de Massa Corporal , Criança , Chile/epidemiologia , HDL-Colesterol/sangue , Feminino , Humanos , Resistência à Insulina/fisiologia , Masculino , Prevalência , Fatores de Risco , Triglicerídeos/sangue , Circunferência da CinturaRESUMO
BACKGROUND: The frequency of obesity is increasing steadily in Chile. AIM: To assess the prevalence of obesity and overweight in children and teenagers living in three southern Chilean cities. MATERIAL AND METHODS: The database of an evaluation performed in 2006 in schools, was used to obtain weight and height of 32514 subjects aged 12 ± 4 years (48% males). Criteria proposed by the International Obesity Task Force (IOTF) and the Centers for Disease Control (CDC) were used to define obesity and overweight. RESULTS: According to CDC criteria the prevalence of overweight and obesity was 11.2% and 6.5%, respectively. According to IOTF criteria, the fgures were 13.2 and 4%, respectively. The higher frequency of overweight and obesity was observed among children aged less than eight years. CONCLUSIONS: There is a high frequency of obesity and overweight in the studied sample.