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ABSTRACT: 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.
Revista medica de Chile 10/2012; 140(10):1245-52. · 0.33 Impact Factor
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ABSTRACT: 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.
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.
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.
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.
Pediatric Diabetes 12/2011; 13(5):384-91. · 2.16 Impact Factor
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ABSTRACT: The frequency of obesity is increasing steadily in Chile.
To assess the prevalence of obesity and overweight in children and teenagers living in three southern Chilean cities.
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.
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.
There is a high frequency of obesity and overweight in the studied sample.
Revista medica de Chile 11/2010; 138(11):1365-72. · 0.33 Impact Factor
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ABSTRACT: 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.
Pediatric Diabetes 05/2009; 11(1):55-60. · 2.16 Impact Factor
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ABSTRACT: Atherosclerotic cardiovascular diseases are the major causes of morbidity and mortality in patients with diabetes mellitus. Both quantitative and qualitative abnormalities of lipo-proteins are associated with the development of atherogenesis. In this study, the prevalence of dyslipidemia and the relative levels of glycosylated lipoproteins in 20 children and adolescents with type 1 diabetes mellitus were determined. Lipid profile, apolipoproteins A-I and B, Lp(a) and LpA-I in plasma were assayed. LpB and glycosylated HDL and LDL were evaluated by ELISA. Diabetic patients and controls had normal lipid profiles, but the diabetic group showed significantly higher LpA-I and lower LpA-I:A-II concentrations than controls. The diabetic group showed a significantly higher glycosylation level of HDL than controls and did not show a statistical difference for glycosylated LDL. No significant correlation between glycosylated lipoproteins, glycemia or HbA1c was found. In conclusion, these results suggest that type 1 diabetic patients develop important qualitative lipid abnormalities.
Journal of pediatric endocrinology & metabolism: JPEM 04/2005; 18(3):257-64. · 0.88 Impact Factor
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ABSTRACT: Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process.
To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors.
A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot.
The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All thefamily was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A*68012/A*68012 allele. Mean breastfeeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family.
There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease.
Revista medica de Chile 02/2004; 132(1):47-50. · 0.33 Impact Factor