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1.
Chinese Journal of Epidemiology ; (12): 511-515, 2023.
Article in Chinese | WPRIM | ID: wpr-969936

ABSTRACT

Childhood obesity is a global public health problem, which can not only endangers children's health, but also might be an important cause of chronic diseases in adulthood. In recent years, with the in-depth development of precision medicine research, more and more research evidences have shown that there are interactions between environmental factors, such as early intrauterine environment, children's diet, physical activity and children's gene factor on the incidence of childhood obesity, which can result in or inhibit the incidence and development of childhood obesity. This paper summarizes the progress in research in this field to reveal the effects and potential mechanisms of genetic factors and environmental factors on the incidence of childhood obesity in order to provide reference for the precise prevention and control of childhood obesity under different genetic backgrounds.


Subject(s)
Child , Humans , Pediatric Obesity/genetics , Diet , Causality , Exercise , Public Health
2.
Chinese Journal of Medical Genetics ; (6): 473-477, 2023.
Article in Chinese | WPRIM | ID: wpr-981773

ABSTRACT

OBJECTIVE@#To explore the clinical phenotype and genetic etiology of a child with early-onset severe obesity.@*METHODS@#A child who presented at the Department of Endocrinology, Hangzhou Children's Hospital on August 5, 2020 was selected as the study subject. Clinical data of the child were reviewed. Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing (WES) was carried out on the child. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#This child was a 2-year-and-9-month girl featuring severe obesity with hyperpigmentation on the neck and armpit skin. WES revealed that she has harbored compound heterozygous variants of the MC4R gene, namely c.831T>A (p.Cys277*) and c.184A>G (p.Asn62Asp). Sanger sequencing confirmed that they were respectively inherited from her father and mother. The c.831T>A (p.Cys277*) has been recorded by the ClinVar database. Its carrier frequency among normal East Asians was 0.000 4 according to the 1000 Genomes, ExAC, and gnomAD databases. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was rated as pathogenic. The c.184A>G (p.Asn62Asp) has not been recorded in the ClinVar, 1000 Genomes, ExAC and gnomAD databases. Prediction using IFT and PolyPhen-2 online software suggested it to be deleterious. Based on the guidelines from the ACMG, it was determined as likely pathogenic.@*CONCLUSION@#The c.831T>A (p.Cys277*) and c.184A>G (p.Asn62Asp) compound heterozygous variants of the MC4R gene probably underlay the early-onset severe obesity in this child. Above finding has further expanded the spectrum of MC4R gene variants and provided a reference for the diagnosis and genetic counseling for this family.


Subject(s)
Female , Humans , Child, Preschool , Computational Biology , East Asian People , Genetic Counseling , Genomics , Mutation , Obesity, Morbid/genetics , Pediatric Obesity/genetics
3.
Journal of Central South University(Medical Sciences) ; (12): 516-525, 2023.
Article in English | WPRIM | ID: wpr-982318

ABSTRACT

OBJECTIVES@#Insulin signaling pathway plays an important role in metabolic associated fatty liver disease (MAFLD), however, the association between polymorphisms of genes related to insulin signaling pathway and MAFLD remains unclear. This study aims to investigate the association between insulin signaling pathway-related gene polymorphisms and gene-gene interactions with MAFLD susceptibility in obese children so as to provide scientific basis for further study of genetic mechanism.@*METHODS@#A total of 502 obese children with MAFLD who admitted to Hunan Provincial Children's Hospital from September 2019 to October 2021, were recruited as a case group, and 421 obese children with non-MAFLD admitted during the same period were recruited as a control group. Socio-demographic information, preterm birth history, eating habits, and exercise status of the subjects were collected by inquiry survey, and anthropometric information was collected by physical measurement. At the same time, 2 mL of venous blood was collected to extract DNA, and the polymorphism of insulin signaling pathway-related genes (5 representative candidate genes, 12 variants) was detected. Multivariate Logistic regression analysis was used to investigate the association between insulin signaling pathway-related gene polymorphisms and MAFLD in obese children.@*RESULTS@#After adjusting for confounder factors, INS rs3842748 was significantly associated with the risk of MAFLD in obese children in allele, heterozygous, and dominant models [OR and 95% CI 1.749 (1.053 to 2.905), 1.909 (1.115 to 3.267), 1.862 (1.098 to 3.157), all P<0.05]; INS rs3842752 was significantly associated with the risk of MAFLD in obese children in heterozygous and dominant models [OR and 95% CI 1.736 (1.028 to 2.932), 1.700 (1.015 to 2.846), all P<0.05]. NR1H3 rs3758674 was significantly correlated with the risk of MAFLD in obese children in allele model [OR and 95% CI 0.716 (0.514 to 0.997), P<0.05]. SREBP-1c rs2297508 was significantly associated with the risk of MAFLD in obese children in allele and dominant models [OR and 95% CI 0.772 (0.602 to 0.991) and 0.743 (0.557 to 0.991), all P<0.05]. SREBP-1c rs8066560 was significantly associated with the risk of MAFLD in obese children in allele, heterozygous, and dominant models [OR and 95% CI 0.759 (0.589 to 0.980), 0.733 (0.541 to 0.992), 0.727 (0.543 to 0.974), all P<0.05]. NR1H3 rs3758674 mutant C and SREBP-1c rs2297508 mutant G had interaction in the development of MAFLD in obese children [OR and 95% CI 0.407 (0.173 to 0.954), P<0.05].@*CONCLUSIONS@#The INS, NR1H3, and SREBP-1c gene polymorphisms in the insulin signaling pathway are associated with the susceptibility of MAFLD in obese children, but the functions and mechanisms of these genes need to be further studied.


Subject(s)
Child , Infant, Newborn , Humans , Female , Pediatric Obesity/genetics , Sterol Regulatory Element Binding Protein 1 , Premature Birth , Non-alcoholic Fatty Liver Disease , Signal Transduction/genetics , Insulins
4.
Chinese Journal of Epidemiology ; (12): 445-451, 2022.
Article in Chinese | WPRIM | ID: wpr-935410

ABSTRACT

Objective: To examine the associations of childhood obesity, assessed by genetic variations of childhood body mass index (BMI), with the risk of adult ischemic heart disease (IHD) and major coronary event (MCE). Methods: More than 69 000 participants from the China Kadoorie Biobank were genotyped. After excluding those with coronary heart disease, stroke, or cancer at baseline, a total of 64 454 participants were included in this study. Based on genome-wide significant single nucleotide polymorphisms (SNPs), childhood BMI genetic risk score were constructed for every participant and divided into quintiles, with the lowest quintile as the low genetic risk group and the highest quintile as the high genetic risk group. Cox proportional hazards regression models were used to estimate the association between genetic predisposition to childhood obesity and the risk of ischemic heart disease. Results: During a median of 10.7 years of follow-up, 7 073 incident cases of IHD and 1 845 cases of MCE were documented. After adjusting for sex, age, region, and the first ten genetic principal components, the HRs (95%CIs) for IHD and MCE in the high genetic risk group were 1.10 (1.02-1.18) and 1.10 (0.95-1.27), compared with the low genetic risk group. IHD risk increased by 4% (2%-6%) for each one standard deviation increase in genetic risk score (trend P=0.001). After further adjustment for baseline BMI, the differences between genetic risk groups were not statistically significant, but there was still a linear trend between genetic risk score and IHD risk (trend P=0.019). Conclusions: IHD risk increased with genetic predisposition to childhood obesity, suggesting that childhood obesity is an important risk factor for the development of IHD in China. As an easily identifiable feature, changes of childhood BMI should be monitored regularly to realize early intervention of IHD in adults.


Subject(s)
Adult , Child , Humans , Body Mass Index , China/epidemiology , Genetic Predisposition to Disease , Myocardial Ischemia/genetics , Pediatric Obesity/genetics , Prospective Studies , Risk Factors
5.
Rev. medica electron ; 43(4): 941-953, 2021. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1341527

ABSTRACT

RESUMEN Introducción: la obesidad es considerada como un problema de salud pública. Por lo general, tiende a comenzar desde edades tempranas. La Organización Mundial de la Salud la ha definido como la epidemia del siglo XXI, por las dimensiones que ha adquirido en las últimas décadas y su impacto en la morbimortalidad, en la calidad de vida y en el elevado costo sanitario. Desde 1973, la incidencia de obesidad a escala mundial se ha triplicado. Objetivo: caracterizar el comportamiento de la obesidad y el sobrepeso en menores de 19 años, en el Consultorio 12 del Policlínico Docente Héroes del Moncada, de Cárdenas, en 2019. Materiales y métodos: se realizó un estudio descriptivo, transversal, en el período de junio de 2018 a junio de 2019. El universo estuvo constituido por 68 niños de 0 a 19 años, con antecedentes de sobrepeso y obesidad. Resultados: el grupo de edades más afectado fue el de los niños de 0 a 4 años; ambos sexos tuvieron igual comportamiento. La mayoría de los niños no realizaba ejercicios físicos. Los alimentos más consumidos fueron los azucarados y los carbohidratos. El factor genético estuvo presente en todos los participantes. Conclusiones: para la prevención de obesidad en la infancia, Cuba cuenta con un primer nivel de atención accesible a toda la población. Se considera que se debe aprovechar esta fortaleza y realizar una labormás enérgica con la familia y la interacción de equipos interdisciplinarios, donde intervengan nutriólogos y licenciados en Educación Física, para así evitar este mal entre los niños y jóvenes (AU).


ABSTRACT Introduction: Obesity is considered a public health problem. In general, it tends to start from early ages. The World Health Organization has defined it as the epidemic of the 21st century due to the dimensions it has acquired in recent decades, and its impact on morbidity, mortality, in life quality, and its high sanitary cost. Since 1973, the incidence of obesity worldwide has increased three times. Objective: to characterize obesity and overweight behavior in children and adolescents aged less than 19 years, form the Family Medical Office 12 of the Teaching Polyclinic Héroes del Moncada, of Cardenas, in 2019. Materials and methods: a descriptive, cross-sectional study was carried out in the period from June 2018 to June 2019. The universe was formed by 68 children aged 0-19 years, with antecedents of overweight and obesity. Results: the most affected age group was the one formed by children aged 0-4 years; both sexes behaved the same. Most of children did not exercised. The most consumed foods were sugar and carbohydrates. The genetic factor was present in all the participants. Conclusions: for preventing obesity in childhood, Cuba has a first health care level accessible to the whole population. The authors consider that this strength should be used, and more active work should be carried out with the family and the interaction of an interdisciplinary team integrated by nutritionists and graduated of Physical Education, to avoid this condition among children and youth (AU).


Subject(s)
Humans , Male , Female , Overweight/genetics , Pediatric Obesity/genetics , Child , Adolescent , Pediatric Obesity/classification , Pediatric Obesity/diagnosis , Health Risk Behaviors
6.
Rev. chil. pediatr ; 91(3): 371-378, jun. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1126174

ABSTRACT

Resumen: Introducción: La obesidad es una enfermedad inflamatoria donde la genética determina cierto nivel de riesgo. Aun cuando existen estudios que reportan asociación entre polimorfismos de FTO (fat-mass associated gene) y adiposidad, existe limitada evidencia en población infantil chilena. Objetivo: determinar la asociación entre el polimorfismo rs9939609 del FTO y marcadores de adiposidad en población in fantil chilena. Pacientes y Método: Estudio de corte transversal incluyó 361 participantes (de 6 a 11 años; 50% niñas). Los datos clínicos y la recolección de muestras de sangre se realizaron entre marzo y junio de 2008. El polimorfismo SNP (rs9939609), del gen FTO, se determinó utilizando ADN genómico extraído de leucocitos, utilizando el Mini Kit QIAamp DNA Blood (Qiagen GmbH, Hilden, Alemania). Los marcadores de adiposidad estudiados fueron, índice de masa corporal (IMC), masa grasa, perímetro de cintura (PC) y razón cintura/talla, y se compararon ajustados por sexo, edad y estadio de Tanner. La asociación entre el polimorfismo estudiado y los marcadores de obesidad se realizó mediante análisis de regresión lineal. Resultados: Al ajustar los marcadores por sexo, edad y estadío de Tanner se observó una asociación significativa entre el polimorfismo e indicadores de adi posidad. Por cada copia extra del alelo de riesgo se encontró un aumento de 2,47 kg de peso corporal, (IC 95%: 1,39-3,55); 1,06 kg/m2 de IMC, (IC 95%: 0,56-1,54); 2,55 cm de PC, (IC 95%: 1,26-3,85) y 1,98% de masa grasa, (IC 95%: 0,78-3,19). Al convertir los marcadores de adiposidad a z-score, la razón perímetro de cintura/talla arrojó la mayor asociación con el alelo de riesgo de FTO. Conclu sión: Este estudio indica asociación entre el polimorfismo rs9939609 del gen FTO con marcadores de adiposidad general y central en población infantil en Chile.


Abstract: Introduction: Obesity is considered a chronic inflammatory disease with an important genetic component. Although several studies have reported an association between the FTO (fat-mass associated gene) and adiposity in children, there is limited evidence in the Chilean population. Objective: To deter mine the association between the polymorphism rs9939609 of the FTO gene and markers of adipo sity in Chilean children. Patients and Method: Cross-sectional study which included 361 children aged between 6 and 11 years (50% were girls). Between March and June 2008, clinical data and blood sample collection was carried out. The rs9939609 single-nucleotide polymorphism (SNP) of the FTO gene, was determined using the genomic DNA extracted from leukocytes, using the QIAamp DNA Blood Mini Kit (Qiagen GmbH, Hilden, Germany).The adiposity markers included were body mass index (BMI), waist circumference (WC), body fat, and WC/H index; which were later compared adjusted by sex, age, and Tanner stage. Linear regression analyses were conducted to detect the association between the polymorphism and obesity markers. Results: After adjusting the models by age, sex, and Tanner stage, we found a significant association between the polymorphism and markers of adiposity. For each extra copy of the risk allele, we found an increase of 2.47 kg body weight (95% CI: 1.39-3.55); 1.06 kg/m2 BMI (95% CI: 0.56-1.54); 2.55 cm WC, (95% CI: 1.26-3.85); and 1.98% body fat (95% CI: 0.78-3.19). When converting adiposity markers to z-score, we found that WC/height index shows the strongest association with the risk allele FTO. Conclusion: This study supports the association between the rs9939609 SNP of the FTO gene and overall and central adiposity markers in Chilean children.


Subject(s)
Humans , Male , Female , Child , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Adiposity/genetics , Pediatric Obesity/genetics , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics , Genetic Markers , Linear Models , Chile , Cross-Sectional Studies , Pediatric Obesity/diagnosis , Pediatric Obesity/pathology
7.
Article in English, Portuguese | LILACS | ID: biblio-998767

ABSTRACT

As doenças cardiovasculares estão entre as maiores causas de morbidade e mortalidade em todo o mundo e são responsáveis por um elevado custo para os sistemas de saúde. Assim, as medidas de prevenção dessas doenças e o controle de seus fatores de risco tornam-se essenciais. Para isso, temos como alternativa, intervenções educacionais para a população, como maneira de fortalecer o indivíduo para realizar as mudanças necessárias em seu estilo de vida, e medidas de educação profissional, para difundir o manejo de emergências cardiovas-culares, com grande impacto na sobrevida de indivíduos com esses problemas. Neste texto, procuramos descrever as medidas educacionais mais frequentes e efetivas para essa prevenção.


Cardiovascular disease is one of the leading causes of morbidity and mortality worldwide and represents a high cost for health systems. Therefore, measures to prevent these conditions and to control their risk factors are essential. One alternative consists of educational interventions for the population as a means of enabling the individual to make the necessary changes in their lifestyle, as well as professional education measures to disseminate the management of cardiovascular emergencies with considerable impact on the survival of individuals with these problems. In this text, we strive to describe the most common and effective educational measures for this prevention


Subject(s)
Humans , Child , Adult , Middle Aged , Aged , Cardiovascular Diseases/mortality , Cardiovascular Diseases/prevention & control , Cardiovascular Diseases/diagnostic imaging , Dyslipidemias/genetics , Pediatric Obesity/genetics , Food and Nutrition Education , Risk Factors , Endothelium/abnormalities , Atherosclerosis/etiology , Sedentary Behavior
8.
J. pediatr. (Rio J.) ; 92(5): 493-498, Sept.-Oct. 2016. tab
Article in English | LILACS | ID: lil-796118

ABSTRACT

Abstract Objective: To determine the association between overweight/obesity in schoolchildren with FTO rs9939609 polymorphism (fatmass and obesity associated) and family history of obesity. Methods: Cross-sectional study comprising a sample of 406 children aged 7-17 years in a city in southern Brazil. Overweight/obesity in schoolchildren was assessed by body mass index (BMI), and family history of obesity was self-reported by parents. Polymorphism genotyping was performed by real time PCR (polymerase chain reaction). The association between the nutritional status of schoolchildren with the presence of family obesity, stratified by polymorphism genotypes (AA [at-risk for obesity], AT, and TT), was assessed by prevalence ratio values (PR) through Poisson regression. Results: Among schoolchildren with the AA genotype, 57.4% had overweight/obesity; the percentage was lower for the AT and TT genotypes (33.1% and 28.9%, respectively). Overweight/obesity in schoolchildren was associated with a family history of obesity, especially among children with the AA genotype. The prevalence was higher among those with an obese mother (PR: 1.28; p < 0.001), obese maternal or paternal grandmother (PR: 1.22; p = 0.047), and obese paternal grandfather (PR: 1.32; p < 0.001). Conclusions: There is an association between the AA genotype of rs9939609 polymorphism and BMI among schoolchildren. The association between overweight/obesity in schoolchildren with a family history of obesity was found mainly among students with the AA genotype.


Resumo Objetivo Verificar se existe relação entre o sobrepeso/obesidade de escolares com o polimorfismo rs9939609, do gene FTO (fat mass and obesity associated), e com o histórico familiar de obesidade. Métodos Estudo transversal composto por uma amostra de 406 escolares, de sete a 17 anos, de um município do sul do Brasil. O sobrepeso/obesidade dos escolares foi avaliado(a) por meio do índice de massa corporal (IMC) e o histórico familiar de obesidade por questões autorreferidas pelos pais. A genotipagem do polimorfismo foi feita por PCR (polymerase chain reaction) em tempo real. A associação entre o estado nutricional dos escolares com a presença de obesidade familiar, estratificada pelos genótipos do polimorfismo (AA - risco para obesidade, AT e TT), foi avaliada pelos valores de razão de prevalência (RP), por meio da regressão de Poisson. Resultados Entre os escolares com o genótipo AA, 57,4% apresentaram sobrepeso/obesidade; para os genótipos TT e AT, o percentual é inferior (33,1% e 28,9%, respectivamente). O sobrepeso/obesidade do escolar associou-se com o histórico familiar de obesidade, principalmente entre os escolares portadores do genótipo AA, foi superior entre os que apresentam mãe obesa (RP: 1,28; p < 0,001), avó materna e paterna obesas (RP: 1,22; p = 0,047) e avô paterno obeso (RP: 1,32; p < 0,001). Conclusões Há relação entre o genótipo AA, do polimorfismo rs9939609, com o IMC dos escolares avaliados. A relação entre sobrepeso/obesidade do escolar com o histórico familiar de obesidade foi encontrada, principalmente, entre os escolares com o genótipo AA.


Subject(s)
Humans , Male , Female , Child , Adolescent , Pedigree , Polymorphism, Genetic/genetics , Overweight/genetics , Pediatric Obesity/genetics , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics , Body Mass Index , Nutritional Status/genetics , Cross-Sectional Studies , Genetic Predisposition to Disease/genetics , Genetic Association Studies
9.
J. pediatr. (Rio J.) ; 92(5): 521-527, Sept.-Oct. 2016. tab, graf
Article in English | LILACS | ID: lil-796111

ABSTRACT

Abstract Objective: Obesity is a chronic disease caused by both environmental and genetic factors. Epidemiological studies have documented that increased energy intake and sedentary lifestyle, as well as a genetic contribution, are forces behind the obesity epidemic. Knowledge about the interaction between genetic and environmental components can facilitate the choice of the most effective and specific measures for the prevention of obesity. The aim of this study was to assess the association between the FTO, AKT1, and AKTIP genes and childhood obesity and insulin resistance. Methods: This was a case-control study in which SNPs in the FTO (rs99396096), AKT1, and AKTIP genes were genotyped in groups of controls and obese/overweight children. The study included 195 obese/overweight children and 153 control subjects. Results: As expected, the obese/overweight group subjects had higher body mass index, higher fasting glucose, HOMA-IR index, total cholesterol, low-density lipoprotein, and triglycerides. However, no significant differences were observed in genes polymorphisms genotype or allele frequencies. Conclusion: The present results suggest that AKT1, FTO, and AKTIP polymorphisms were not associated with obesity/overweight in Brazilians children. Future studies on the genetics of obesity in Brazilian children and their environment interactions are needed.


Resumo Objetivo A obesidade é uma doença crônica sustentada por fatores ambientais e genéticos. Estudos epidemiológicos documentaram que maior ingestão de energia e um estilo de vida sedentário, bem como a contribuição genética, são forças por trás da epidemia de obesidade. O conhecimento sobre a interação entre os componentes genéticos e ambientais pode facilitar a escolha das medidas mais efetivas e específicas para a prevenção da obesidade. O objetivo deste estudo foi avaliar a relação entre os genes associado à massa de gordura e à obesidade (FTO), homólogo 1 do oncogene viral v-akt de timoma murino (AKT1) e de ligação AKT1 (AKTIP) e a obesidade infantil e a resistência à insulina. Métodos Estudo de caso-controle no qual os polimorfismos de nucleotídeo simples (SNPs) nos genes FTO (rs99396096), AKT1 e AKTIP foram genotipados em grupos de controle e de crianças obesas/acima do peso. Foram recrutadas 195 crianças obesas/acima do peso e 153 indivíduos controle. Resultados Como esperado, os indivíduos do grupo obeso/acima do peso apresentaram maior índice de massa corporal, maior glicemia de jejum, índice do modelo de avaliação de homeostase (HOMA-IR), colesterol total, lipoproteína de baixa densidade e triglicerídeos. Contudo, não encontramos diferenças significativas no genótipo de polimorfismos gênicos ou nas frequências alélicas. Conclusão Nossos resultados sugerem que os polimorfismos AKT1, FTO e AKTIP não estavam associados à obesidade/sobrepeso em crianças brasileiras. São necessários estudos futuros sobre a genética da obesidade em crianças brasileiras e suas interações ambientais.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adaptor Proteins, Signal Transducing/genetics , Overweight/genetics , Apoptosis Regulatory Proteins/genetics , Pediatric Obesity/genetics , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics , Brazil/ethnology , Insulin Resistance , Case-Control Studies , Polymorphism, Single Nucleotide , Gene Frequency/genetics
10.
Invest. clín ; 57(3): 246-258, Sept. 2016. ilus, graf
Article in Spanish | LILACS | ID: biblio-841115

ABSTRACT

The presence of childhood obesity predisposes to the development of cardio vascular and metabolic diseases, such as coronary artery disease and type 2 diabetes mellitus, in adulthood. The polymorphisms described in PAI-1 gene have been linked with obesity and metabolic syndrome in several populations. The aim of this study was to investigate the as sociation of the -844 G/A (rs2227631), -675 4G/5G (rs1799889) and HindIII C/G (rs757716) PAI-1 polymorphisms with obesity and dyslipidemia in a sample of Mexican children. A cross-sectional study was performed in 222 children with an age range between 6-11 years; 104 children were classified as obese and 118 children with normal-weight. The PAI-1 poly morphisms were analyzed by PCR-RFLP. Linkage disequilibrium (LD) and haplogenotype analysis among the three polymorphisms were determined. The results showed significant as sociations with obesity of the -844 G/A genotype and the A allele (OR= 2.75, p<0.001 and OR= 1.76, p=0.01, respectively). The -844 G/A polymorphism was found in LD with -675 4G/5G PAI-1 polymorphism (D’= 0.77). We found that G-4G-C/A-5G-G is a risk haplogeno type for obesity [OR=2.6; 95% confidence interval (CI) 1.17-4.22; p= 0.01] and with marginal association with hypertriglyceridemia(OR= 2.6; 95% CI 1.04-6.35; p= 0.05). The G-4G-C/A 5G-G PAI-1 haplogenotype may be a genetic marker of susceptibility for obesity and hypertri glyceridemia in Mexican children.


La presencia de la obesidad en la infancia predispone al desarrollo de enfermedades cardiovasculares y metabólicas, como la enfermedad arterial coronaria y la diabetes mellitus tipo 2 en la edad adulta. Algunos polimorfismos en el gen PAI-1 se han relacionado con la obesidad y el síndrome metabólico en varias poblaciones. El objetivo del estudio fue investigar la asociación de los polimorfismos -844 G/A (rs2227631), -675 4G/5G (rs1799889) y HindIII C/G (rs757716) en el gen PAI-1 con la obesidad y las dislipidemias en una muestra de niños mexicanos. Se realizó un estudio transversal en 222 niños con un rango de edad de 6-11 años, de los cuales 104 niños fueron clasificados con obesidad y 118 con peso normal. Los poli morfismos en el gen PAI-1 fueron analizados por PCR-RFLP. También se determinó el desequilibrio de ligamiento y el análisis de haplogenotipos de los tres polimorfismos. Los resultados mostraron la asociación significativa de la obesidad con el genotipo -844 G/A y el alelo A (OR= 2,75, p<0,001 y OR= 1,76, p=0,01, respectivamente). El polimorfismo -844 G/A se encontró en desequilibrio de ligamiento con el -675 4G/5G (D’= 0.77). También se encontró que el haplogenotipo G-4G-C/A-5G-G es un marcador de riesgo para la obesidad [OR=2,6; 95% intervalo de confianza (CI) 1,17-4,22; p= 0,01], además de que este haplogenotipo presentó una asociación marginal con la hipertrigliceridemia (OR= 2,6; 95% CI 1,04-6,35; p= 0,05). El haplogenotipo G-4G-C/A-5G-G en el gen PAI-1 puede ser un marcador genético de susceptibilidad para obesidad e hipertrigliceridemia en niños mexicanos.


Subject(s)
Child , Female , Humans , Male , Hypertriglyceridemia/genetics , Plasminogen Activator Inhibitor 1/genetics , Pediatric Obesity/genetics , Cross-Sectional Studies , Genetic Predisposition to Disease , Genotype , Mexico
11.
Rev. chil. endocrinol. diabetes ; 8(1): 14-18, ene.2015. tab
Article in Spanish | LILACS | ID: lil-789318

ABSTRACT

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...


Subject(s)
Humans , Male , Female , Child , Nutritional Status , Pediatric Obesity/genetics , Polymorphism, Genetic , Body Mass Index , Chile , Genetic Association Studies , Indians, South American , Pediatric Obesity/epidemiology , Proteins/genetics , Sex Factors
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