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1.
Biomédica (Bogotá) ; 41(4): 651-659, oct.-dic. 2021. tab
Article in English | LILACS | ID: biblio-1355740

ABSTRACT

Abstract | Introduction: Identifying obesity risk factors as a health problem facing communities is crucial given its complexity. The vitamin D receptor gene has been reported as a possible cause of this disease. Objective: To study the association of the VDR gene ApaI, BsmI, and Ta qI polymorphisms with obesity in an Iranian population. Materials and methods: We analyzed the genotypes of 348 obese (BMI≥30 kg/m2) and 320 non-obese people (BMI: 18.5-24.9 kg/m2) using PCR-RFLP. We measured FBS, TG, total cholesterol, and HDL and LDL cholesterol levels in an automatic biochemical analyzer. Results: We found significantly higher BMI, FBS, and TG levels in the obese group compared to the control. In the obese individuals, the frequency of genotype AA was 47.1% and that of the combined Aa+aa genotype, 52.9% while in the control group they were 30% and 70%, respectively (p=0.024, 95% confidence interval (CI)=1.100-3.933, odds ratio (OR)=2.08). A and a alleles frequencies for the ApaI polymorphism were statistically significant in the two groups (allele A vs. a; p=0.017). No significant relationship was observed between Ta qI genotypes and alleles in the control and obese subjects. Conclusion: We found that VDR ApaI (rs7975232 C/A) polymorphism appeared to be a risk factor for obesity. Especially, the A allele and the AA genotype in ApaI were associated with the obesity phenotypes.


Resumen | Introducción. La determinación de los factores de riesgo de la obesidad en la población iraní como problema de salud de la comunidad es crucial dada su complejidad. El gen receptor de la vitamina D (VDR) se ha mencionado como posible causante de dicha enfermedad. Objetivo. El objetivo del estudio fue investigar la asociación de los polimorfismos Apal, Bsml y Ta ql, con el gen VDR y la obesidad en una población iraní. Materiales y métodos. Se analizaron genotipos de 348 individuos obesos (BMI≥30 kg/m²) y 320 no obesos (BMI: 18,5-24,9 kg/m²) mediante reacción en cadena de la polimerasa y polimorfismos de longitud de fragmentos de restricción (PCR-RFLP). Para medir los niveles de glucemia en ayunas, tiroglobulina (TG), colesterol total, colesterol HDL y colesterol LDL, se utilizó un analizador bioquímico automático. Resultados. Los índices de masa corporal, glucemia en ayunas y TG fueron significantemente más elevados en el grupo de los obesos que en el de control. En los individuos obesos, la incidencia del genotipo AA fue de 47,1 % y la del genotipo combinado Aa+aaa fue de 52,9 %, en tanto que en el grupo de control estas cifras fueron, respectivamente, de 30 y 70 % (p=0,024; IC95% 1,100-3,933; la razón de probabilidades (OR) fue de 2,08. La frecuencia de los alelos "A" y "a" para el polimorfismo Apal en ambos grupos fue estadísticamente significativa (alelo A Vs. A; p=0,017). No se observó ninguna relación significativa entre los genotipos Ta ql y los alelos en los sujetos obesos y, tampoco, en los controles. Conclusión. El polimorfismo Apal del gen VDR (rs 7975232C/A) sería un factor de riesgo para la obesidad. El alelo y el genotipo AA en dicho polimorfismo se asociaron con los fenotipos de obesidad.


Subject(s)
Vitamin D , Obesity/genetics , Polymorphism, Genetic , Body Mass Index , Iran
2.
Arq. ciências saúde UNIPAR ; 25(1): 61-77, jan-abr. 2021.
Article in Portuguese | LILACS | ID: biblio-1151421

ABSTRACT

A obesidade é caracterizada pelo aumento excessivo da gordura corporal e está ligada ao estilo de vida, ao meio ambiente e a genética do indivíduo. O equilíbrio entre ingestão e gasto energético é controlado por mecanismos neurais, hormonais, químicos e genéticos. Estudos sugerem que o gene FTO (Fat mass and obesity associated) atua como regulador primário do acúmulo de gordura corporal, quando associado a SNPs (Single Nucleotide Polymorphism) específicos, predispõe à obesidade. O propósito deste trabalho foi verificar a produção científica, analisar e catalogar os estudos de polimorfismos no gene FTO associados à obesidade e suas comorbidades. A busca por publicações entre 2009 e 2018 foi realizada na base de dados SciELO com a palavra-chave "FTO". Foram encontrados 23 artigos originais dentro dos critérios da pesquisa que correlacionam o FTO à obesidade. O nome do autor principal, país, idioma, ano de publicação, título, objetivo, polimorfismo associado e os resultados dos estudos foram extraídos e organizados para facilitar a tabulação dos dados. Também foram pesquisados os números de citações de cada artigo, utilizando-se a plataforma Google Acadêmico. Embora o Brasil se encontre em primeiro lugar em produção científica para o gene FTO na base de dados prospectada, o número de artigos originais ainda é muito modesto. Assim, os resultados encontrados podem servir de subsídio no delineamento de novas pesquisas sobre os polimorfismos do gene FTO e as causas da obesidade.


Obesity is characterized by the excessive increase in body fat and is correlated to the lifestyle, environment, and also to the genetics of the individual. The balance between energy intake and expenditure is controlled by neural, hormonal, chemical, and genetic mechanisms. Studies suggest that the FTO (fat mass and obesity associated), a gene associated with fat mass, plays a role as a primary regulator of body fat buildup, when associated to specific Single Nucleotide Polymorphisms (SNPs), causing predisposition to obesity. This paper aimed at reviewing, analyzing, and cataloguing the studies on FTO gene polymorphisms associated with obesity and its comorbidities. The search was carried out in SciELO database, checking articles published between 2009 and 2018 using the keyword "FTO". Twenty-three original articles, matching the research criteria, correlating FTO either positively or negatively with obesity, were found. The main author's name, country, language, year of publication, title, objective, associated polymorphism, and the study results were extracted and organized to facilitate data tabulation. The citation numbers for each article were also searched by using the Google Scholar platform. Although Brazil ranks first in scientific production on the FTO gene in the surveyed database, the number of original articles is still very modest. Therefore, the results found in this paper may be used as a basis for the design of new research on the FTO gene polymorphisms and the causes of obesity.


Subject(s)
Polymorphism, Single Nucleotide , Genetics , Obesity/genetics , Satiety Response , Energy Intake/genetics , Body Mass Index , Adipose Tissue , Lipid Metabolism/genetics , Nutrigenomics , Fats , Genotype , Life Style , Metabolism/genetics
3.
Article in Chinese | WPRIM | ID: wpr-879136

ABSTRACT

The aim of this study was to elucidate the mechanism of nuciferine on alleviating obesity based on modulating gut microbiota, ameliorating chronic inflammation, and improving gut permeability. In this study, the obese model mice were induced by high-fat diet and then randomly divided into model group, and nuciferine group; some other mice of the same week age were fed with normal diet as normal group. In the modeling process, the mice were administered intragastrically(ig) for 12 weeks. In the course of both modeling and treatment, the body weight and food intake of mice in each group were measured weekly. After modeling and treatment, the Lee's index, weight percentage of inguinal subcutaneous fat, and the level of blood lipid in each group were measured. The pathological changes of adipocytes were observed by HE staining to evaluate the efficacy of nuciferine treatment in obese model mice. 16 S rRNA sequencing analysis was conducted to study the changes in diversity and abundance of gut microbiota after nuciferine treatment. Enzyme-linked immunosorbent assay(ELISA) and quantitative Real-time polymerase chain reaction(qPCR) were used to detect the levels of inflammatory factors interleukin-6(IL-6), interleukin-1β(IL-1β), tumor necrosis factor-α(TNF-α) and the expression of related genes in adipose tissue of mice in each group, so as to evaluate the effect of nuciferine on chronic inflammation of mice in obese model group. qPCR was used to detect the expression of occludin and tight junction protein 1(ZO-1)gene in colon tissure, so as to evaluate the effect of nuciferine on intestinal permeability of mice in obese group. Nuciferine decreased the body weight of obese mice, Lee's index, weight percentage of inguinal subcutaneous fat(P<0.05), and reduced the volume of adipocytes, decreased the level of total cholesterol(TC), triglyceride(TG), and low density lipoprotein cholesterol(LDL-C)(P<0.05) in serum, improved dysbacteriosis, increased the relative abundance of Alloprevotella, Turicibacter, and Lactobacillus, lowered the relative abundance of Helicobac-ter, decreased the expression of inflammatory cytokines IL-6, IL-1β, and TNF-α genes in adipose tissue(P<0.01), decreased the levels of inflammatory cytokines IL-6, IL-1β, and TNF-α in serum(P<0.05), and increased the expression of occludin and ZO-1 genes related to tight junction in colon tissue(P<0.01). Nuciferine could treat obesity through modulating gut microbiota, decreasing gut permeability and ameliorating inflammation.


Subject(s)
Animals , Aporphines , Diet, High-Fat/adverse effects , Gastrointestinal Microbiome , Mice , Mice, Inbred C57BL , Mice, Obese , Obesity/genetics
4.
J. pediatr. (Rio J.) ; 96(5): 630-637, Set.-Dec. 2020. tab
Article in English | ColecionaSUS, LILACS, ColecionaSUS, SES-SP | ID: biblio-1135072

ABSTRACT

Abstract Objective: To investigate the association between the FTO gene polymorphism with obesity in Brazilian adolescents from the Northeast region. Method: This was a case-control study with adolescents aged 18 to 19 years. The case group consisted of 378 obese individuals and the control group of 378 non-obese individuals. Obesity was measured by percentage of body fat using the air displacement plethysmography technique. The study variables included data on socioeconomics, demographics, lifestyle, physical activity, waist circumference, waist-to-height ratio, and body mass index. To identify the rs9939609 polymorphism of the FTO gene, blood samples were obtained for genomic DNA extraction by the real-time PCR (Polymerase Chain Reaction) technique. Categorical variables were compared between the groups by the chi-squared test. The normality of the anthropometric measurements body mass index, waist circumference, waist-to-height ratio, and percentage of body fat was evaluated by the Shapiro-Wilk test. Comparison of the anthropometric measurements, stratified by the polymorphism genotypes, was performed by the Kruskal-Wallis test. The Hardy-Weinberg equilibrium was calculated. The significance level was set at 5%. Results: The variables gender, age, and physical activity showed significant differences between the groups (p < 0.001). The samples of obese and non-obese adolescents were in Hardy-Weinberg equilibrium (p = 0.0515). There was no significant difference between the genotypic (p = 0.719) and allelic frequencies (p = 0.812) regarding the case and control groups. When comparing the anthropometric measurements according to the genotypes (AA, AT, and TT), no significant difference was observed for body mass index (p = 0.337), waist circumference (p = 0.3473), percentage of body fat (p = 0.7096), and waist-to-height ratio (p = 0.2584). Conclusion: The excess adiposity of the study adolescents was not influenced by their genotype.


Resumo Objetivo: Investigar a relação do polimorfismo do gene FTO com obesidade em adolescentes no Nordeste brasileiro. Método: Estudo caso-controle realizado com adolescentes de 18 a 19 anos. O grupo caso foi formado por 378 indivíduos obesos e o controle por 378 não obesos. Obesidade foi medida pelo percentual de gordura corporal pela técnica de pletismografia por deslocamento de ar. Variáveis em estudo englobam dados socioeconômicos, demográficos, hábitos de vida, atividade física, circunferência da cintura, razão cintura-estatura e índice de massa corporal. Para identificação do polimorfismo rs9939609 do gene FTO foram obtidas amostras de sangue para extração do DNA genômico pela técnica de PCR em tempo real. Variáveis categóricas foram comparadas entre os grupos pelo teste qui-quadrado. Normalidade das medidas antropométricas índice de massa corporal, circunferência da cintura, razão cintura-estatura e percentual de gordura corporal foram avaliados pelo teste Shapiro-Wilk. Comparação das medidas antropométricas, estratificadas pelos genótipos do polimorfismo, foi realizada pelo teste Kruskall-Wallis. Calculou-se o equilíbrio de Hardy-Weinberg. Nível de significância adotado de 5%. Resultados: As variáveis sexo, idade e atividade física apresentaram diferenças significativas entre os grupos (p < 0,001). As amostras dos adolescentes obesos e não obesos estavam em equilíbrio de Hardy-Weinberg (p = 0,0515). Não houve diferença significante entre as frequências genotípicas (p = 0,719) e alélicas (p = 0,812) em relação aos grupos caso e controle. Quando comparadas as medidas antropométricas segundo os genótipos (AA, AT e TT), não foi observada diferença significante do índice de massa corporal (p = 0,3337), circunferência da cintura (p = 0,3473), percentual de gordura corporal (p = 0,7096) e razão cintura-estatura (p = 0,2584). Conclusão: O excesso de adiposidade dos adolescentes em estudo não foi influenciado pelo genótipo.


Subject(s)
Humans , Adolescent , Young Adult , Polymorphism, Single Nucleotide , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics , Obesity/genetics , Brazil , Body Mass Index , Case-Control Studies , Genotype
5.
Arq. ciências saúde UNIPAR ; 24(2): 81-85, maio-ago. 2020.
Article in Portuguese | LILACS | ID: biblio-1116356

ABSTRACT

A obesidade possui vários prejuízos para a saúde e está associada à inúmeras patologias e baixa expectativa de vida. O desequilíbrio alimentar é um fator que necessita de atenção especial, pois é capaz de alterar as interações entre nutrientes e genes. O objetivo deste trabalho foi verificar as principais linhas de pesquisa associadas à nutrigenômica, e evidenciar a relação da influência da nutrição na expressão de genes relacionados à obesidade. Realizou-se o levantamento bibliográfico e a análise cienciométrica por meio do banco de dados publicados na Biblioteca Virtual em Saúde (BVS) e do Centro Latino-Americano de Informação em Ciências da Saúde (BIREME). Identificou-se 118 artigos originais, os quais foram agrupados em cinco classes: restrição calórica, expressão gênica, alimentos, intervenção dietética e diversos. Os resultados evidenciaram que a restrição calórica possui relação direta da expressão gênica com o controle das células cancerígenas e a diminuição do excesso de tecido adiposo. Além disso, a análise cienciométrica relacionou a importância das fibras alimentares na redução do colesterol e sensibilidade à insulina, bem como a ação do jejum na regulação negativa de genes que contribuem para o crescimento do tecido adiposo. Dessa forma, este artigo fornece princípios ideológicos para auxiliar especialistas na aplicabilidade de estratégias para atingir a redução de peso sustentável por meio da expressão gênica.


Obesity has several health risks and is associated with numerous pathologies and low life expectancy. Food imbalance is a factor that needs special attention, as it is able to change the interactions between nutrients and genes. This study aimed at verifying the main lines of research associated with nutrigenomics, and at showing the relationship of the influence of nutrition on the expression of genes related to obesity. The bibliographic survey and scientometric analysis were carried out through the database published in the Biblioteca Virtual em Saúde (BVS) and the Centro Latino-Americano de Informação em Ciências da Saúde (BIREME). A total of 118 articles of original research were identified, and were grouped into five categories: caloric restriction; gene expression; food; dietary intervention; and miscellaneous. The results showed that caloric restriction has a direct relationship between gene expression and the control of cancer cells and the reduction of excess adipose tissue. Furthermore, the scientometric analysis related the importance of dietary fibers in reducing cholesterol and insulin sensitivity as well as the action of fasting in the negative regulation of genes that contribute to the growth of adipose tissue. Thus, this paper provides ideological principles to assist specialists in the applicability of strategies to achieve sustainable weight reduction through gene expression.


Subject(s)
Gene Expression/genetics , Food/adverse effects , Obesity/genetics , Dietary Fiber , Weight Loss , Adipose Tissue , Caloric Restriction , Dietetics , Nutritional Sciences , Nutrigenomics , Insulin , Neoplasms
6.
Arch. endocrinol. metab. (Online) ; 64(3): 205-222, May-June 2020. tab, graf
Article in English | LILACS | ID: biblio-1131094

ABSTRACT

ABSTRACT The Human Genome Project has significantly broadened our understanding of the molecular aspects regulating the homeostasis and the pathophysiology of different clinical conditions. Consequently, the field of nutrition has been strongly influenced by such improvements in knowledge - especially for determining how nutrients act at the molecular level in different conditions, such as obesity, type 2 diabetes, cardiovascular disease, and cancer. In this manner, characterizing how the genome influences the diet and vice-versa provides insights about the molecular mechanisms involved in chronic inflammation-related diseases. Therefore, the present review aims to discuss the potential application of Nutritional Genomics to modulate obesity-related inflammatory responses. Arch Endocrinol Metab. 2020;64(3):205-22


Subject(s)
Humans , Diet, Mediterranean , Nutrigenomics , Inflammation/genetics , Obesity/genetics , Chronic Disease , Genetic Predisposition to Disease , Inflammation/metabolism , Obesity/metabolism
7.
Rev. chil. nutr ; 46(6): 792-799, dic. 2019. graf
Article in Spanish | LILACS | ID: biblio-1058143

ABSTRACT

RESUMEN La obesidad es una enfermedad multifactorial definida como acumulación patológica de grasa. Su prevalencia ha aumentado enormemente en el mundo. Chile presenta una de las mayores prevalencias de obesidad de la OCDE. Su casuística simplificada comprende una diferencia sostenida entre gasto e ingesta de energía, manteniendo un delta positivo traducido en mayor acumulación de grasa. No obstante, la etiología completa de esta enfermedad comprende también factores psicológicos, genéticos, ambientales, etc. El ambiente juega un papel clave en la predisposición al consumo de alimentos, a la realización de ejercicio físico, incluso afectando la susceptibilidad genómica, exacerbando o disminuyendo la carga genética. Esta modificación de susceptibilidad genética por el ambiente se conoce como epigenética, que se refiere a una serie de modificaciones por "sobre" la genética que son altamente modificables por factores ambientales. Se ha descrito que algunas de estas modificaciones pueden heredarse de una generación a otra, lo que otorga otro nivel de complejidad al estudio de nuevas terapias complementarias para frenar la tendencia al sobrepeso. En la presente revisión se describe cuales son las modificaciones epigenéticas más frecuentes encontradas, su relación con obesidad y dieta, y finalmente como se relaciona con la transmisión transgeneracional de esta patología.


ABSTRACT Obesity is a multifactorial disease defined by a pathological accumulation of body fat. Its prevalence has increased greatly across the world. Chile has one of the highest prevalence of obesity among OCDE countries. It is caused by a sustained difference between energy expenditure and intake, keeping a positive delta, which drives fat accumulation. However, its etiology is comprised several factors: psychological, genetics, environmental, etc. The environment plays a key role in the predisposition towards food consumption, the adoption of exercise, and genetic susceptibility, increasing or decreasing the genetic load towards obesity. This modification of susceptibility is known as epigenetics, which refers to modifications "over" genetics, which are highly modifiable by environmental factors. Some of these modifications can be inherited from one generation to another, granting a higher complexity level regarding designing novel complementary therapies against obesity. Thus, the present review described which epigenetic modifications are related to obesity and different dietary patterns, and finally how epigenetic modifications can be related to transgenerational transmission of obesity.


Subject(s)
Humans , Animals , Epigenesis, Genetic , Obesity/genetics , Histones , DNA Methylation , Genetic Predisposition to Disease , MicroRNAs/genetics , Diet
8.
Pesqui. vet. bras ; 39(11): 909-914, Nov. 2019. tab, ilus
Article in English | LILACS, VETINDEX | ID: biblio-1056917

ABSTRACT

The Labrador Retriever is among the main breeds with the greatest predisposition to obesity. Several factors, especially the interrelationships between food management, exercise and social factors; influence the likelihood of a dog becoming obese. Furthermore, genetic factors are also responsible for obesity in dogs, and in Labrador Retriever, a frameshift mutation (P187fs) in pro-opiomelanocortin (POMC) gene is strongly associated with obesity. There is no knowledge of studies that have previously evaluated the prevalence of the canine POMC deletion (P187fs) in Brazilian Labrador Retriever. Therefore, the objective of this study was to investigate this mutation in Labrador Retriever dogs in Brazil. Of the 108 Labrador Retrievers that were assessed in this study, 59 were from a previous study, composed by animals assisted in a veterinary hospital with unknown lineage, and 49 were from a prospective study, composed of 19 pet and 30 assistance/rescue Labrador Retriever dogs. The obesity risk and appetite questionnaire were applied, with some modifications, to tutors of the animals used in the prospective study. Fragments of the DNA, containing the mutation, were amplified by PCR and submitted to direct gene sequencing. The allele frequency of the mutation was 21.3% and was out of Hardy-Weinberg equilibrium (P<0.05). Using only the data of animals with known lineage, the presence of the mutated allele was higher in the Assistance/rescue Group than Pet Group (P<0.01), furthermore, the allele frequencies observed in Assistance Group (31.7%) was out of Hardy-Weinberg equilibrium (P<0.05), while that in the Pet Group (18.4%) was in equilibrium (P>0.05). Although the mutation has increased the food-motivation in the assistance/rescue dogs, other variables, especially frequent exercising, favored that these animals maintained the ideal body weight (body condition score = 5). In summary, the Hardy-Weinberg disequilibrium observed in the allele distribution of the deletion POMC_P187fs in this study, independently of the Labrador Retriever group assessed, suggesting the possibility of positive selection of the mutated allele, which may lead to the maintenance of this deleterious allele in the studied population.(AU)


O Labrador Retriever é uma das principais raças caninas com maior predisposição à obesidade. Vários fatores, especialmente as interrelações entre a alimentação, exercício e fatores sociais, influenciam a probabilidade de um cão se tornar obeso. Além disso, fatores genéticos são também responsáveis pela obesidade em cães, e no Labrador Retriever a mutação "frameshift" P187fs no gene pró-opiomelanocortina (POMC) está fortemente associada à obesidade. Não existem estudos prévios de prevalência da deleção P187fs no gene POMC em cães Labrador Retriever no Brasil. Portanto, o objetivo deste estudo foi investigar esta mutação em cães da raça Labrador Retriever no Brasil. Dos 108 Labradores Retrievers avaliados neste estudo, 59 eram de um estudo retrospectivo (composto por animais atendido no hospital veterinário e sem linhagem conhecida) e 49 eram de um estudo prospectivo (composto por 19 cães pet e 30 cães de assistência/resgate). Um questionário de risco de obesidade modificado foi aplicado nos tutores dos animais usados no estudo prospectivo. Fragmentos de DNA, contendo a mutação, foram amplificados por PCR e submetidos ao sequenciamento gênico direto. A frequência alélica da mutação foi de 21,3% e estava fora do equilíbrio de Hardy-Weinberg (P<0,05). Usando somente os dados dos animais de linhagem conhecida, a presença do alelo mutado foi maior no Grupo de cães de Assistência/resgate que no Grupo de Pets (P<0,01), além disso, as frequências alélicas nos Grupos de Assistência/resgate (31,7%) e no de pets (18,4%) estavam fora e em equilíbrio de Hardy-Weinberg (P<0,05), respectivamente. Embora a mutação tenha aumentado a motivação pelo alimento em cães Labrador Retriever do Grupo de Assistência/resgate, outras variáveis, especialmente o frequente exercício, favoreceu a manutenção o peso corporal ideal (peso corporal = 5). Em resumo, o desequilíbrio de Hardy-Weinberg observado na distribuição do alelo POMC_P187fs observado neste estudo, independentemente do grupo de Labrador Retriever avaliado, sugere a possibilidade de uma seleção positiva para o alelo mutado, o qual poderá levar a manutenção desse alelo deletério nesta população.(AU)


Subject(s)
Animals , Male , Female , Dogs , Pro-Opiomelanocortin/genetics , Obesity/genetics , Obesity/veterinary
11.
Arch. endocrinol. metab. (Online) ; 63(4): 402-410, July-Aug. 2019. tab, graf
Article in English | LILACS | ID: biblio-1019361

ABSTRACT

ABSTRACT Objective The increased prevalence of obesity and associated comorbidities, such as cardiovascular and metabolic diseases, has gained attention worldwide, and the renin-angiotensin system (RAS) has been pointed out as a possible link. Thus, the present study aimed to verify the possible association between angiotensinogen (AGT) or angiotensin-converting enzyme (ACE) polymorphisms with overweight and obesity in adults. Subjects and methods The present investigation was a population-based cross-sectional study including 1,567 individuals from an urban area in Brazil. Anthropometric, clinical and biochemical parameters were evaluated, and all individuals were genotyped for the ACE I/D and AGT M/T polymorphisms. Results The prevalence of overweight was higher among men, whereas obesity was more prevalent among women. However, the frequency of ACE or AGT polymorphisms was similar among body mass index (BMI) categories. In addition, the mean age-adjusted BMI averages did not change significantly for ACE or AGT polymorphisms, regardless of sex or BMI category. The age-adjusted BMI average for the combination of ACE and AGT genotypes evidenced no significant differences regardless of sex or BMI categories. Results were similar when BMI was replaced by waist circumference (WC). Conclusions We were not able to find any associations between BMI and WC (overweight/obesity) and ACE and AGT polymorphisms, indicating that the RAS system might not be involved in overweight and obesity, at least based on genetic backgrounds. However, further studies must measure RAS components to elucidate this question.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Polymorphism, Genetic/genetics , Renin-Angiotensin System/genetics , Overweight/genetics , Obesity/genetics , Blood Pressure , Brazil , Body Mass Index , Angiotensinogen/genetics , Cross-Sectional Studies , Sex Distribution , Age Distribution , Peptidyl-Dipeptidase A/genetics , Waist Circumference , Gene Frequency/genetics
12.
Arq. bras. oftalmol ; 82(4): 336-338, July-Aug. 2019. graf
Article in English | LILACS | ID: biblio-1019412

ABSTRACT

ABSTRACT Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity and is caused by a deletion of the short arm of chromosome 11 (11p), where the PAX6 gene is located. Here, we report on an 8-year-old boy with aniridia, polar cataract, and lens subluxation along with neuropsychomotor and speech delays. Karyotype evaluation showed an interstitial deletion including region 11p13-p14, confirming the diagnosis of WAGRO syndrome. In cases of aniridia, a diagnosis of WAGRO syndrome should be considered.


RESUMO A aniridia é uma doença ocular congênita com grau variável de hipoplasia ou ausência do tecido da íris. É causada pela perda de função do gene PAX6 e pode ser uma anormalidade ocular isolada ou parte de uma síndrome. WAGRO refere-se a uma condição genética rara que leva ao tumor de Wilms, aniridia, anomalias geniturinárias, déficit intelectual e obesidade e é causada por uma deleção do braço curto do cromossomo 11 (11p), onde o gene PAX6 está localizado. Aqui, nós relatamos um menino de 8 anos de idade com aniridia, catarata polar e subluxação do cristalino, além de retardo neuropsicomotor e de fala. A avaliação cariotípica revelou uma deleção intersticial envolvendo a região 11p13-p14, confirmando o diagnóstico da síndrome WAGRO. Em casos de aniridia, um diagnóstico de síndrome de WAGRO deve ser considerado.


Subject(s)
Humans , Male , Child , Cataract/diagnosis , Aniridia/diagnosis , Lens Subluxation/diagnosis , WAGR Syndrome/diagnosis , Obesity/diagnosis , Cataract/genetics , Chromosomes, Human, Pair 11/genetics , Aniridia/genetics , Lens Subluxation/genetics , Chromosome Deletion , WAGR Syndrome/genetics , Karyotype , Obesity/genetics
13.
Biol. Res ; 52: 21, 2019. tab, graf
Article in English | LILACS | ID: biblio-1011423

ABSTRACT

BACKGROUND: Defects in DNA methylation have been shown to be associated with metabolic diseases such as obesity, dyslipidemia, and hypercholesterolemia. To analyze the methylation profile of the ADRB3 gene and correlate it with lipid profile, lipid intake, and oxidative stress based on malondialdehyde (MDA) and total antioxidant capacity (TAC), homocysteine and folic acid levels, nutritional status, lifestyle, and socioeconomic variables in an adult population. A cross-sectional epidemiological study representative of the East and West regions of the municipality of João Pessoa, Paraíba state, Brazil, enrolled 265 adults of both genders. Demographic, lifestyle, and socioeconomic questionnaires and a 24-h recall questionnaire were applied by trained interviewers' home. Nutritional and biochemical evaluation (DNA methylation, lipid profile, MDA, TAC, homocysteine and folic acid levels) was performed. RESULTS: DNA hypermethylation of the ADRB3 gene, analyzed in leukocytes, was present in 50% of subjects and was associated with a higher risk of being overweight (OR 3.28; p = 0.008) or obese (OR 3.06; p = 0.017), a higher waist-hip ratio in males (OR 1.17; p = 0.000), greater intake of trans fats (OR 1.94; p = 0.032), higher LDL (OR 2.64; p = 0.003) and triglycerides (OR 1.81; p = 0.031), and higher folic acid levels (OR 1.85; p = 0.022). CONCLUSIONS: These results suggest that epigenetic changes in the ADRB3 gene locus may explain the development of obesity and non-communicable diseases associated with trans-fat intake, altered lipid profile, and elevated folic acid. Because of its persistence, DNA methylation may have an impact in adults, in association with the development of non-communicable diseases. This study is the first population-based study of the ADRB3 gene, and the data further support evaluation of ADRB3 DNA methylation as an effective biomarker.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Young Adult , DNA Methylation/physiology , Receptors, Adrenergic, beta-3/genetics , Lipids/blood , Obesity/genetics , Socioeconomic Factors , Energy Intake , Nutritional Status , Cross-Sectional Studies , Feeding Behavior , Life Style , Obesity/metabolism , Obesity/blood
14.
In. Negrão, Carlos Eduardo; Pereira-Barretto, Antônio Carlos; Rondon, Maria Urbana Pinto Brandão. Cardiologia do exercício: do atleta ao cardiopata / Exercise cardiology: from athlete to heart disease. São Paulo, Manole, 4ª; 2019. p.305-334.
Monography in Portuguese | LILACS | ID: biblio-1015677
15.
Rev. méd. Chile ; 146(11): 1252-1260, nov. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-985698

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Young Adult , Energy Intake/genetics , Alcohol Drinking/genetics , Nutrients , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics , Genotype , Reference Values , Socioeconomic Factors , Exercise , Linear Models , Chile , Anthropometry , Cross-Sectional Studies , Risk Factors , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Life Style , Obesity/genetics
17.
Rev. méd. Chile ; 146(6): 717-726, jun. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-961452

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Young Adult , Adiposity/genetics , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics , Genotype , Obesity/genetics , Reference Values , Socioeconomic Factors , Genetic Markers , Linear Models , Chile/ethnology , Anthropometry , Polymerase Chain Reaction , Cross-Sectional Studies , Risk Factors , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Alleles , Adiposity/ethnology , Life Style , Obesity/ethnology
18.
Nutrire Rev. Soc. Bras. Aliment. Nutr ; 43: 1-9, Mar. 2018. tab
Article in English | LILACS | ID: biblio-881663

ABSTRACT

BACKGROUND: Bitterness perception seems to be related to an enhanced intake of dietary fat and to a tendency to the development of diseases such as obesity. However, the exact factors for this possible contribution still need to be better investigated. So, gustatory perception of the bitter taste is a promising area of study because of its importance regarding food choices and consequently feeding behavior. Therefore, this short review focused on recent papers reporting correlations between bitter taste, anthropometric variables, obesity and other chronic diseases, age, gender, ethnicity, and genetics. METHODS: A survey was performed in MEDLINE (PubMed) and Scielo from September 2015 to January 2017.Only review articles, observational studies and clinical trials published in English and Portuguese over the last15 years which met the objectives of the present study were considered. A total of 40 papers were evaluated. RESULTS: Two papers showed a positive correlation between bitter taste and obesity, one indicated that this correlation is influenced by the subject's age, one suggested a negative correlation, and two found no association. Age seems to be negatively correlated with the bitterness perceived, and female gender was associated with a stronger perception of bitterness. Genetics, mostly due to differences in TAS2R38 expression, influences sensitivity to the bitter taste, feeding behavior and also alcohol intake. Ethnicity, not only the subject's phenotypic or genotypic characteristics, seems to play a role in taste perception and nutritional diseases. CONCLUSIONS: Age, gender, genetics and ethnicity seem to play a role in bitterness perception. Data about associations between bitterness perception and anthropometrics are conflicting.


Subject(s)
Humans , Male , Female , Dysgeusia , Obesity/genetics , Taste Disorders/genetics , Taste Perception/genetics
19.
J. pediatr. (Rio J.) ; 93(6): 551-559, Nov.-Dec. 2017. graf
Article in English | LILACS | ID: biblio-894067

ABSTRACT

Abstract Objective: To discuss the recent literature on paternal obesity, focusing on the possible mechanisms of transmission of the phenotypes from the father to the children. Sources: A non-systematic review in the PubMed database found few publications in which paternal obesity was implicated in the adverse transmission of characteristics to offspring. Specific articles on epigenetics were also evaluated. As the subject is recent and still controversial, all articles were considered regardless of year of publication. Summary of findings: Studies in humans and animals have established that paternal obesity impairs their hormones, metabolism, and sperm function, which can be transmitted to their offspring. In humans, paternal obesity results in insulin resistance/type 2 diabetes and increased levels of cortisol in umbilical cord blood, which increases the risk factors for cardiovascular disease. Notably, there is an association between body fat in parents and the prevalence of obesity in their daughters. In animals, paternal obesity led to offspring alterations on glucose-insulin homeostasis, hepatic lipogenesis, hypothalamus/feeding behavior, kidney of the offspring; it also impairs the reproductive potential of male offspring with sperm oxidative stress and mitochondrial dysfunction. An explanation for these observations (human and animal) is epigenetics, considered the primary tool for the transmission of phenotypes from the father to offspring, such as DNA methylation, histone modifications, and non-coding RNA. Conclusions: Paternal obesity can induce programmed phenotypes in offspring through epigenetics. Therefore, it can be considered a public health problem, affecting the children's future life.


Resumo Objetivo: Discutir a literatura recente sobre obesidade paterna, focalizando os possíveis mecanismos de transmissão dos fenótipos do pai para os filhos. Fontes: Uma revisão não-sistemática no banco de dados PubMed encontrou poucas publicações com obesidade paterna implicada com a transmissão adversa das características à prole. Artigos específicos sobre epigenética também foram avaliados. Como o assunto é recente e ainda controverso, todos os trabalhos foram considerados independentemente do ano de publicação. Resumo dos achados: Estudos em seres humanos e animais estabeleceram que a obesidade do pai prejudica seus hormônios, metabolismo e função espermática, que pode ser transmitida à prole. Em humanos, a obesidade paterna resulta em resistência à insulina / diabetes tipo 2 e aumento do nível de cortisol no sangue do cordão umbilical, que aumenta os fatores de risco para doença cardiovascular. Notavelmente, existe associação entre a gordura corporal nos pais e a prevalência de obesidade em suas filhas. Em animais, pais obesos condicionam, na prole, a homeostase glicose-insulina, lipogênese hepática, hipotálamo / comportamento alimentar, rim, prejudicam o potencial reprodutivo da prole masculina com estresse oxidativo espermático e disfunção mitocondrial. Uma explicação para estas observações (humanos e animais) é a epigenética, considerada a ferramenta básica para a transmissão de fenótipos do pai à prole, como a metilação do DNA, modificações nas histonas, e RNA não codificante. Conclusões: A obesidade paterna pode induzir fenótipos programados na prole através da epigenética. Portanto, a obesidade paterna pode ser considerada um problema de saúde pública, afetando a vida futura das crianças.


Subject(s)
Humans , Animals , Male , Female , Epigenesis, Genetic/genetics , Fathers , Obesity/genetics , Obesity/metabolism , Models, Animal
20.
Med. infant ; 24(3): 294-302, Sept.2017. tab, ilus
Article in Spanish | LILACS | ID: biblio-878356

ABSTRACT

La obesidad infantil es un problema creciente de salud, asociado con una significativa morbilidad física y psicológica a edades tempranas. La obesidad es una enfermedad multifactorial, causada en la mayoría de los casos por la interacción de determinados polimorfismos genéticos con el medio ambiente. Solo en un 5 % resulta de mutaciones en genes específicos, originando en algunos casos síndromes mendelianos de muy escasa incidencia en la población que se clasifican como obesidades monogenicas. La mayoría de estos genes están implicados en la regulación del hambre-saciedad en el sistema nervioso central, en el cual el eje de leptina-melanocortina desempeña un rol fundamental. Se presentan clínicamente como formas de obesidad de inicio precoz, severas, que se asocian con trastornos de la conducta alimentaria y alteraciones endocrinológicas. La mutación en el gen del receptor melanocortina-4 (MC4R) es la causa más común de obesidad monogénica grave de aparición temprana. El objetivo de esta revisión es realizar una actualización sobre las obesidades de inicio precoz de causa monogénicas, su etiopatogenia, sus principales características clínicas y su abordaje terapéutico. El manejo de estos pacientes aún es un reto, ya que el tratamiento específico solo se encuentra disponible en un solo tipo de obesidad monogénica. Para el resto de los tipos se encuentran en investigación nuevas moléculas que actúan sobre la vía leptina-melanocortina


Childhood obesity is a growing health problem associated with significant physical and psychological morbidity at an early age. Obesity is a multifactorial disease in the majority of cases caused by an interaction of certain genetic polymorphisms and the environment. In only 5% of the patients it is related to specific gene mutations in some cases resulting in very rare Mendelian syndromes classified as monogenic obesity. The majority of these genes are involved in the hunger-satiety regulation in the central nervous system, in which the leptin-melanocortin axis plays a fundamental role. Clinically, these forms of obesity present at an early age, are severe, and are associated with eating disorders and endocrine alterations. A mutation in the melanocortine-4 receptor (MC4R) gene is the most common cause of early-onset severe monogenic obesity. The aim of this review was to provide an update of the different forms of early-onset monogenic obesity, focusing on the etiopathogenicity, main clinical features, and therapeutic approach. The management of these patients is still a challenge as specific treatment is only available for one type of monogenic obesity. For the remaining types new molecules that act on the leptin-melanocortin pathway are currently being investigated


Subject(s)
Humans , Obesity/etiology , Obesity/genetics , Obesity/therapy , Obesity/complications , Pediatric Obesity , Receptor, Melanocortin, Type 4/genetics , Receptors, Leptin/genetics , Receptors, Melanocortin/genetics
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