Introdução: A deglutição e suas características principais ainda são desconhecidas na demência frontotemporal. Objetivos: Caracterizar a deglutição e o comportamento alimentar de pacientes com diagnóstico de demência frontotemporal que apresentam a variante comportamental (DFTvc) e a afasia progressiva primária (APP). Caracterizar os pacientes com DFT e seus cuidadores. Descrever aspectos cognitivos e comportamentais, funcionalidade global, comunicação funcional, e a funcionalidade da deglutição na DFT. Descrever os problemas de deglutição e do comportamento alimentar na DFTvc e APP. Correlacionar os aspectos cognitivos e comportamentais, funcionalidade global e a comunicação com as características da deglutição. Identificar fatores preditivos da piora da funcionalidade da deglutição e do comportamento alimentar na DFT. Avaliar o comportamento dos instrumentos empregados. Desenvolver a versão reduzida do Questionário de Habilidades de Alimentação e Deglutição nas Demências e do Questionário de Comunicação Funcional na Afasia. Método: Este estudo incluiu 46 indivíduos com DFT nas fases leve, moderada e grave, e seus 46 cuidadores. O Mini exame do estado mental (MEEM) e o Mini exame do estado mental grave (MEEM-g) foram usados para avaliar os aspectos cognitivos. A Escala de estadiamento da demência (CDR-DLFT) foi usada para confirmar a fase da doença. O Inventário Neuropsiquiátrico (INP) foi aplicado para investigar os problemas comportamentais. A Bateria de Avaliação Frontal (BAF) investigou as funções executivas. O Índice das Atividades de Vida Diária (Katz), Questionário para Avaliação da Comunicação Funcional na Afasia (QACFA) e a Escala de funcionalidade da deglutição (EFD) avaliaram as habilidades funcionais. O Questionário de Habilidades de Alimentação e Deglutição nas Demências (QHADD) avaliou as dificuldades na deglutição e alimentação. Resultados: Os grupos DFTvc e APP não mostraram diferença estatisticamente significante no MEEM, CDR e BAF. Os cuidadores dos pacientes com DFTvc apresentaram mais horas de cuidado por dia em comparação aos pacientes com APP (p<0,05). Os grupos diferiram na EFD (p < 0,05). As características comportamentais que foram significantes na comparação entre os grupos DFTvc e APP foram: delírio, desinibição, comportamento motor aberrante e distúrbios do sono(p < 0,05) e alucinação (p=0,01). Os pacientes com DFTvc tiveram mais problemas de deglutição do que os pacientes com APP, tais como: tosse e engasgos, dificuldade com alguma consistência alimentar e dificuldade com alimento específico. Os problemas de deglutição na DFTvc se correlacionaram com a funcionalidade, aspectos cognitivos (p < 0,05), com a função executiva e com o comportamento (p < 0,01). Na APP, o subtipo semântico apresentou mais problemas de deglutição, tais como: escape de saliva e comida da boca, múltiplas deglutições, atraso na iniciação da deglutição e engasgos, estas características se correlacionaram com a ansiedade (p < 0,01), apatia e comportamento motor aberrante (p=0,01). Os problemas do comportamento alimentar foram mais frequentes no subtipo logopênico e se correlacionaram com dificuldades de comunicação. Os principais fatores preditivos da piora da funcionalidade da deglutição foram: declínio funcional, alterações comportamentais e o comprometimento da comunicação. Os problemas de deglutição foram observados em todas as fases da demência. A BAF foi o único instrumento que não apresentou uma boa confiabilidade interna. Conclusão: Problemas na deglutição foram observados nas duas variantes desde os estágios iniciais da demência. As alterações comportamentais, cognitivas e funcionais, e dificuldades na comunicação comprometeram as fases antecipatória e preparatória oral da deglutição. Por causa destas alterações, os cuidadores tiveram dificuldade no gerenciamento da situação de alimentação. Nosso estudo desenvolveu questionários resumidos para avaliar a deglutição e a comunicação funcional / Introduction: Swallowing and its main characteristics are still unknown in frontotemporal dementia. Objectives: To characterize swallowing and feeding behavior of patients with frontotemporal dementia who have behavioral variant (bvFTD) and primary progressive aphasia (PPA). To characterize patients with FTD and their caregivers.To describe cognitive and behavioral aspects, functionalstatus, functional communication, and swallowing function in FTD.To describe swallowing problems and feeding behavior in bvFTD and PPA. To correlate cognitive and behavioral aspects, functional status, and communication with swallowing. To identify predictive factors associated with worsening of functionality of swallowing and feeding behavior in FTD. To evaluate the instruments used. To develop reduced versions of: \"Assessment of Feeding and Swallowing Difficulties in Dementia\" and \"Functional Outcome Questionnaire Aphasia\". Method: This study included 46 individuals with FTD in mild, moderate and severe phases, and their 46 caregivers. The Mini mental state examination (MMSE) and the Severe Mini mental state examination (SMMSE) were used to assess the cognitive aspects. The FTLD-modified Clinical Dementia Rating scale (FTLD-CDR) was used to confirm the stage of the disease. The Neuropsychiatric Inventory (NPI) was applied to investigate the behavioral problems. The Frontal Assessment Battery (FAB) investigated executive functions. The Index of Activities of Daily Living (Katz), Functional Outcome Questionnaire- Aphasia and Swallowing rating scale (SRE) evaluated the functional abilities. The Assessment of Feeding and Swallowing Difficulties in Dementia (QHADD) evaluated the difficulties in swallowing and feeding. Results: bvFTD and PPA groups showed no statistically significant difference in MMSE, CDR and FAB. Caregivers of patients with bvFTD had more hours of care per day compared to patients with PPA (p < 0.05). The groups differed in SRE (p < 0.05). The behavioral characteristics that were significant in the comparison between bvFTD and PPA groups were delirium, disinhibition, aberrant motor behavior and sleep disturbances (p < 0.05), and hallucinations (p = 0.01). Patients with bvFTD had more swallowing problems than patients with PPA, such as coughing and choking, difficulty with some food consistency and difficulty with specific food. Swallowing problems in bvFTD correlated with functionality, with the cognitive aspects (p < 0.05), with executive function and behavior (p < 0.01). In PPA, the semantic subtype showed more swallowing problems such as escape of saliva and food in mouth, multiple swallows, delay in initiation of swallowing and choking, these characteristics correlated with anxiety (p < 0.01), apathy and aberrant motor behavior (p = 0.01). The problems of feeding behavior were more frequent in logopenic subtype and correlated with communication difficulties. The major predictors of worsening of swallowing function were: functional decline, behavioral changes and impaired communication. Swallowing problems were observed at all stages of dementia. The BAF was the only instrument that had bad internal reliability. Conclusion: Swallowing problems were observed in the two variants from the early stages of dementia. Behavioral, cognitive and functional changes, and difficulties in communication compromised the anticipatory and oral preparatory phase of swallowing. Because of these changes, caregivers had difficulty in managing the feeding situation. Our study developed reduced versions of questionnaires to assess swallowing and functional communication

La ghréline acylée, une hormone produite par l’estomac, favorise la prise de poids corporel, majoritairement sous forme de masse grasse, par le biais de divers mécanismes centraux et périphériques via le récepteur sécrétagogue de l’hormone de croissance (GHSR). Le GHSR est un récepteur couplé aux protéines G qui, en plus de répondre à la ghréline acylée, possède une signalisation indépendante de la ghréline par le biais de son activité constitutive ou par une modulation de réponses dopaminergiques via oligomérisation du GHSR avec des récepteurs dopaminergiques. Malgré les puissantes réponses pharmacologiques à la ghréline acylée, des modèles animaux capables d’appréhender la complexité du système ghréline acylée-GHSR in vivo manquent, ce qui a considérablement ralenti l’élucidation des rôles physiologiques de cette hormone et de son récepteur. En effet, les modèles génétiques murins générés jusqu’à présent manquent de spécificité au niveau de l’hormone (incapacité à discriminer la ghréline acylée de la ghréline désacylée), et/ou au niveau du GHSR (incapacité à discriminer les différents modes de signalisation du GHSR). Dans ce contexte, de nouveaux modèles qui impacteraient de façon différentielle les voies de signalisation du GHSR seraient des outils pertinents pour contribuer au déchiffrage du système ghréline acylée-GHSR in vivo. Nous nous sommes ainsi attachés à caractériser un modèle de rats porteur d’une mutation ponctuelle dans le Ghsr qui prédit la délétion d’un domaine régulateur dans l’extrémité C-terminale du GHSR (GhsrQ343X). Dans des modèles cellulaires, nous avons montré que cette mutation découple le GHSR des processus d’internalisation du récepteur et de recrutement de la β-arrestine induits par la ghréline acylée, tout en augmentant la réponse aux agonistes du GHSR dans la voie des protéines G. Conformément à ce mécanisme, les rats mutants homozygotes GhsrM/M ont une réponse accrue à l’administration d’agonistes du GHSR sur le plan de la libération d’hormone de croissance, de la prise alimentaire ou de l’activité locomotrice. L’exploration physiologique et comportementale des rats GhsrM/M indique que la mutation GhsrQ343X est associée à une augmentation du poids et de l’adiposité indépendamment de la prise alimentaire, une diminution de l’oxydation globale des acides gras, de la flexibilité métabolique et de la tolérance au glucose, sans impact critique sur la prise alimentaire homéostatique. En outre, étant donné que la mutation GhsrQ343X n’augmente pas les niveaux circulants de ghréline, le phénotype métabolique général des rats GhsrM/M est en accord avec une sensibilité augmentée du GHSR en réponse au tonus endogène de ghréline acylée. Enfin, des résultats préliminaires suggèrent que la mutation GhsrQ343X pourrait être associée à des altérations relatives aux fonctions de récompense et de mémoire dont les mécanismes sous-jacents restent à décrypter. En résumé, nous proposons le modèle de rat mutant GhsrQ343X comme un nouvel outil, plus spécifique que les modèles murins d’invalidation génétique, pour explorer in vivo la signalisation du GHSR dans diverses fonctions biologiques, et à plus long terme aider au design de composés pharmacologiques ciblant le GHSR efficaces dans un cadre clinique. / The stomach-derived hormone acyl ghrelin promotes body weight gain, mostly in the form of fat mass, by means of several central and peripheral mechanisms mediated by the growth hormone secretagogue receptor (GHSR). The GHSR is a G protein-coupled receptor that, in addition to respond to acyl ghrelin, displays agonist-independent signaling through high constitutive activity and possibly heteromerization with dopamine receptors. Despite the potent biological properties of exogenous acyl ghrelin, the lack of animal models able to apprehend the complexity of the acyl ghrelin-GHSR system in vivo has been hampering the elucidation of its physiological roles. Indeed, genetic mouse models generated so far lack specificity either at the level of the hormone (not able to discriminate between acyl ghrelin versus desacyl ghrelin) and/or at the level of the GHSR (not able to discriminate between GHSR signaling modes). In this context, new models differentially affecting GHSR signaling pathways would represent valuable tools to decipher the acyl ghrelin-GHSR system in vivo. We therefore aimed at characterizing a new rat model carrying a point mutation in Ghsr that predicts truncation of a regulatory domain in the C-terminus, the GhsrQ343X mutation. In cellular models, this mutation was found to uncouple the GHSR from agonist-dependent receptor internalization and β-arrestin recruitment, while enhancing GHSR responsiveness in the G protein pathway. Accordingly, homozygous mutant GhsrM/M rats show enhanced responsiveness to exogenous GHSR agonists in terms of growth hormone release, food intake and locomotor activity. Physiological and behavioral exploration of GhsrM/M rats supports that the GhsrQ343X mutation is associated with increased body weight gain and adiposity independently of calorie intake, reduced whole-body fat oxidation, metabolic flexibility and glucose tolerance, without any critical impact on homeostatic feeding behavior. Moreover, given that circulating ghrelin levels are not increased by the GhsrQ343X mutation, the overall metabolic phenotype of GhsrM/M rats is consistent with enhanced GHSR sensitivity to the endogenous tone of acyl ghrelin. Furthermore, preliminary results suggest that the GhsrQ343X mutation could be associated with behavioral alterations related to reward and memory functions, through mechanisms that remain to be elucidated. Altogether, we propose the GhsrQ343X mutant rat model as a novel tool, more specific than knockout mouse models in its mechanism-of-action, to explore GHSR signaling across biological functions in vivo, and ultimately help in the design of efficient GHSR-targeting drugs.

Introdução: A deglutição e suas características principais ainda são desconhecidas na demência frontotemporal. Objetivos: Caracterizar a deglutição e o comportamento alimentar de pacientes com diagnóstico de demência frontotemporal que apresentam a variante comportamental (DFTvc) e a afasia progressiva primária (APP). Caracterizar os pacientes com DFT e seus cuidadores. Descrever aspectos cognitivos e comportamentais, funcionalidade global, comunicação funcional, e a funcionalidade da deglutição na DFT. Descrever os problemas de deglutição e do comportamento alimentar na DFTvc e APP. Correlacionar os aspectos cognitivos e comportamentais, funcionalidade global e a comunicação com as características da deglutição. Identificar fatores preditivos da piora da funcionalidade da deglutição e do comportamento alimentar na DFT. Avaliar o comportamento dos instrumentos empregados. Desenvolver a versão reduzida do Questionário de Habilidades de Alimentação e Deglutição nas Demências e do Questionário de Comunicação Funcional na Afasia. Método: Este estudo incluiu 46 indivíduos com DFT nas fases leve, moderada e grave, e seus 46 cuidadores. O Mini exame do estado mental (MEEM) e o Mini exame do estado mental grave (MEEM-g) foram usados para avaliar os aspectos cognitivos. A Escala de estadiamento da demência (CDR-DLFT) foi usada para confirmar a fase da doença. O Inventário Neuropsiquiátrico (INP) foi aplicado para investigar os problemas comportamentais. A Bateria de Avaliação Frontal (BAF) investigou as funções executivas. O Índice das Atividades de Vida Diária (Katz), Questionário para Avaliação da Comunicação Funcional na Afasia (QACFA) e a Escala de funcionalidade da deglutição (EFD) avaliaram as habilidades funcionais. O Questionário de Habilidades de Alimentação e Deglutição nas Demências (QHADD) avaliou as dificuldades na deglutição e alimentação. Resultados: Os grupos DFTvc e APP não mostraram diferença estatisticamente significante no MEEM, CDR e BAF. Os cuidadores dos pacientes com DFTvc apresentaram mais horas de cuidado por dia em comparação aos pacientes com APP (p<0,05). Os grupos diferiram na EFD (p < 0,05). As características comportamentais que foram significantes na comparação entre os grupos DFTvc e APP foram: delírio, desinibição, comportamento motor aberrante e distúrbios do sono(p < 0,05) e alucinação (p=0,01). Os pacientes com DFTvc tiveram mais problemas de deglutição do que os pacientes com APP, tais como: tosse e engasgos, dificuldade com alguma consistência alimentar e dificuldade com alimento específico. Os problemas de deglutição na DFTvc se correlacionaram com a funcionalidade, aspectos cognitivos (p < 0,05), com a função executiva e com o comportamento (p < 0,01). Na APP, o subtipo semântico apresentou mais problemas de deglutição, tais como: escape de saliva e comida da boca, múltiplas deglutições, atraso na iniciação da deglutição e engasgos, estas características se correlacionaram com a ansiedade (p < 0,01), apatia e comportamento motor aberrante (p=0,01). Os problemas do comportamento alimentar foram mais frequentes no subtipo logopênico e se correlacionaram com dificuldades de comunicação. Os principais fatores preditivos da piora da funcionalidade da deglutição foram: declínio funcional, alterações comportamentais e o comprometimento da comunicação. Os problemas de deglutição foram observados em todas as fases da demência. A BAF foi o único instrumento que não apresentou uma boa confiabilidade interna. Conclusão: Problemas na deglutição foram observados nas duas variantes desde os estágios iniciais da demência. As alterações comportamentais, cognitivas e funcionais, e dificuldades na comunicação comprometeram as fases antecipatória e preparatória oral da deglutição. Por causa destas alterações, os cuidadores tiveram dificuldade no gerenciamento da situação de alimentação. Nosso estudo desenvolveu questionários resumidos para avaliar a deglutição e a comunicação funcional / Introduction: Swallowing and its main characteristics are still unknown in frontotemporal dementia. Objectives: To characterize swallowing and feeding behavior of patients with frontotemporal dementia who have behavioral variant (bvFTD) and primary progressive aphasia (PPA). To characterize patients with FTD and their caregivers.To describe cognitive and behavioral aspects, functionalstatus, functional communication, and swallowing function in FTD.To describe swallowing problems and feeding behavior in bvFTD and PPA. To correlate cognitive and behavioral aspects, functional status, and communication with swallowing. To identify predictive factors associated with worsening of functionality of swallowing and feeding behavior in FTD. To evaluate the instruments used. To develop reduced versions of: \"Assessment of Feeding and Swallowing Difficulties in Dementia\" and \"Functional Outcome Questionnaire Aphasia\". Method: This study included 46 individuals with FTD in mild, moderate and severe phases, and their 46 caregivers. The Mini mental state examination (MMSE) and the Severe Mini mental state examination (SMMSE) were used to assess the cognitive aspects. The FTLD-modified Clinical Dementia Rating scale (FTLD-CDR) was used to confirm the stage of the disease. The Neuropsychiatric Inventory (NPI) was applied to investigate the behavioral problems. The Frontal Assessment Battery (FAB) investigated executive functions. The Index of Activities of Daily Living (Katz), Functional Outcome Questionnaire- Aphasia and Swallowing rating scale (SRE) evaluated the functional abilities. The Assessment of Feeding and Swallowing Difficulties in Dementia (QHADD) evaluated the difficulties in swallowing and feeding. Results: bvFTD and PPA groups showed no statistically significant difference in MMSE, CDR and FAB. Caregivers of patients with bvFTD had more hours of care per day compared to patients with PPA (p < 0.05). The groups differed in SRE (p < 0.05). The behavioral characteristics that were significant in the comparison between bvFTD and PPA groups were delirium, disinhibition, aberrant motor behavior and sleep disturbances (p < 0.05), and hallucinations (p = 0.01). Patients with bvFTD had more swallowing problems than patients with PPA, such as coughing and choking, difficulty with some food consistency and difficulty with specific food. Swallowing problems in bvFTD correlated with functionality, with the cognitive aspects (p < 0.05), with executive function and behavior (p < 0.01). In PPA, the semantic subtype showed more swallowing problems such as escape of saliva and food in mouth, multiple swallows, delay in initiation of swallowing and choking, these characteristics correlated with anxiety (p < 0.01), apathy and aberrant motor behavior (p = 0.01). The problems of feeding behavior were more frequent in logopenic subtype and correlated with communication difficulties. The major predictors of worsening of swallowing function were: functional decline, behavioral changes and impaired communication. Swallowing problems were observed at all stages of dementia. The BAF was the only instrument that had bad internal reliability. Conclusion: Swallowing problems were observed in the two variants from the early stages of dementia. Behavioral, cognitive and functional changes, and difficulties in communication compromised the anticipatory and oral preparatory phase of swallowing. Because of these changes, caregivers had difficulty in managing the feeding situation. Our study developed reduced versions of questionnaires to assess swallowing and functional communication

Text in English / In order to address the paucity of knowledge in regard to the psychological and physiological processes associated with lifelong weight loss (>20 years), this study adopts a qualitative approach informed by phenomenology to explore the experience of lifelong weight loss and maintenance of women who participated in the ITAND Programme. The research questions guiding the exploration of the current research are: (i) Which strategies from the ITAND Programme do women perceive as assisting with initial weight loss? (ii) What are the processes mediating lifelong weight loss? (iii) What strategies and skills mediate the maintenance of lifelong weight loss? (iv) What feelings or beliefs motivate women to continue attempts to lose weight after experiencing multiple failures on diets? and (v) Which psychological, cognitive and behavioural processes are identified as mediating lifelong weight loss? Eight overweight and obese women were invited to write their narratives and engage in interviews in regard to exploring their relationships with food, their bodies and their weight, after a period of more than 20 years following their participation in an integrative, transactional analysis, anti-diet programme (the ITAND Programme). Narratives were used to explore their beliefs about constructs, processes and strategies mediating long-term weight loss maintenance. The participants’ narratives and interviews were analysed through applying narrative analysis and interpretive phenomenological analysis. In addition to a non-diet paradigm, four processes definingweight loss maintenance were identified, including the adult learning process of transformative learning, the psychological process of transactional analysis, the physiological process of intuitive eating and the cognitive-behavioural processes relating to weight loss maintenance. This study contributes an integrative, transactional analysis, non-diet treatment model (ITAND model) which is enabled by the processes of transformative learning, intuitive eating and cognitive-behaviour modification to the successful long- term treatment of overweight and obesity. This model may be applied in whole or in part in a primary health care or community context. The findings of this study may be used to inform future research into the development and implementation of non-diet weight loss maintenance interventions in the treatment of overweight andobesity. / Psychology / D.Litt. et Phil. (Psychology)

INTRODUÇÃO: A obesidade infantil é um importante problema de saúde pública e apresenta impacto direto na qualidade de vida das crianças e adolescentes, bem como no desenvolvimento futuro de doenças crônicas. O padrão alimentar rico em gordura e açúcar, e com baixo aporte de fibra dietética, vitaminas e minerais é reconhecido como fator de risco para o surgimento da obesidade, no entanto os fatores que contribuem para a preferência por alimentos ricos nestes nutrientes não são bem estabelecidos. O sabor dos alimentos é reconhecido como um importante preditor das escolhas alimentares, e os polimorfismos nos genes que codificam os receptores do sabor podem explicar a variabilidade da preferência e consumo alimentar na população. OBJETIVO: Avaliar a influência de polimorfismos de genes de receptores de sabor gorduroso (CD36), doce (TAS1R2) e amargo (TAS2R38) no consumo alimentar e no perfil metabólico de crianças e adolescentes obesos. MÉTODOS: Estudo transversal com 668 crianças e adolescentes obesos e um grupo controle de 135 crianças eutróficas, de ambos os gêneros. Foi realizado o estudo molecular dos polimorfismos de nucleotídeo único (SNPs) rs1761667 e rs1527483 do CD36, rs9701796 e rs35874116 do TAS1R2, e rs1726866 e rs713598 do TAS2R38, bem como análise do consumo alimentar e perfil metabólico. RESULTADOS: Em relação ao CD36, o alelo A do rs1761667 relacionou-se com menor consumo de lipídios totais, gorduras poli e monoinsaturadas, consumo de alimentos de sabor gorduroso, ingestão de óleos vegetais e açúcares totais em obesos. O alelo A do rs1527483 associou-se com menor percentil de pressão arterial diastólica, menor massa gorda e maior massa livre de gordura em obesos. Quanto ao gene TAS1R2, a variante rs9701796 teve maior risco metabólico segundo a razão circunferência da cintura-estatura (RCE), bem como relação com maior consumo de achocolatado em pó em obesos. Já a variante rs35874116 mostrou relação com a menor ingestão de fibras dietéticas em obesos. No TAS2R38, o alelo G do rs1726866 foi associado com menor consumo de gorduras monoinsaturadas e maior consumo de açúcares totais, em obesos. O alelo G do rs713598 mostrou relação com maior consumo de carboidratos, consumo de alimentos de sabor doce, refrigerantes e menor ingestão de fibras pelos indivíduos eutróficos. CONCLUSÃO: Não houve relação entre genótipos e risco de obesidade. Os achados mostram a associação entre polimorfismos dos genes de receptores de sabor com o consumo alimentar, indicando diferenças entre obesos e magros, e alelos de proteção e de risco cardiometabólico, respectivamente dos genes CD36 e TAS1R2 / BACKGROUND: Childhood obesity is a major public health problem and it has a direct impact on the quality of life of children and adolescents, as well as the future risk for development of chronic diseases. The dietary pattern rich in fats and sugars associated to the low intake of dietary fibers, vitamins and minerals is widespread for the rise of obesity. However the factors that contribute to the preference for foods rich in these nutrients are not well established. Taste is recognized as an important predictor of food choices, and polymorphisms in genes encoding its receptors may explain the variability of taste preference and food intake on population. OBJECTIVE: To evaluate the influence of polymorphisms of fat (CD36), sweet (TAS1R2) and bitter (TAS2R38) taste receptor genes in diet and metabolic profile in obese children and adolescents. METHODS: Cross-sectional study with 668 obese children and adolescents and a control group of 135 normal-weight children. The molecular study was made for single nucleotide polymorphisms (SNPs) rs1761667 and rs1527483 of CD36, rs9701796 and rs35874116 of TAS1R2, rs1726866 and rs713598 of TAS2R38, and the analysis of food intake and metabolic profile. RESULTS: In relation to CD36, the A allele of rs1761667 was associated with lower intake of total fat, poly and monounsaturated fats, consumption of fatty flavor food, intake of vegetable oils and total sugars in obese. The A allele of rs1527483 was associated with lower percentile of diastolic blood pressure, lower fat mass and increased fat-free mass in obese. Regarding TAS1R2 gene, the variant rs9701796 was associated to increased metabolic risk according to waist-height ratio, as well as with higher consumption of chocolate powder in obese. The variant rs35874116 showed a lower intake of dietary fiber. In TAS2R38, the G allele of rs1726866 was associated with a lower intake of monounsaturated fat and a higher intake of total sugars in obese. The G allele of rs713598 was related to the higher carbohydrate intake, consumption of sweet tasting food, soda drinks and less fiber intake by normal weight children. CONCLUSION: There was no relationship between genotypes and risk of obesity. The findings show the association between polymorphisms of taste receptor genes with dietary intake, indicating differences between obese and lean children, as well as the protective and risk alleles for cardiometabolic risk in CD36 and TAS1R2, respectively

INTRODUÇÃO: A obesidade infantil é um importante problema de saúde pública e apresenta impacto direto na qualidade de vida das crianças e adolescentes, bem como no desenvolvimento futuro de doenças crônicas. O padrão alimentar rico em gordura e açúcar, e com baixo aporte de fibra dietética, vitaminas e minerais é reconhecido como fator de risco para o surgimento da obesidade, no entanto os fatores que contribuem para a preferência por alimentos ricos nestes nutrientes não são bem estabelecidos. O sabor dos alimentos é reconhecido como um importante preditor das escolhas alimentares, e os polimorfismos nos genes que codificam os receptores do sabor podem explicar a variabilidade da preferência e consumo alimentar na população. OBJETIVO: Avaliar a influência de polimorfismos de genes de receptores de sabor gorduroso (CD36), doce (TAS1R2) e amargo (TAS2R38) no consumo alimentar e no perfil metabólico de crianças e adolescentes obesos. MÉTODOS: Estudo transversal com 668 crianças e adolescentes obesos e um grupo controle de 135 crianças eutróficas, de ambos os gêneros. Foi realizado o estudo molecular dos polimorfismos de nucleotídeo único (SNPs) rs1761667 e rs1527483 do CD36, rs9701796 e rs35874116 do TAS1R2, e rs1726866 e rs713598 do TAS2R38, bem como análise do consumo alimentar e perfil metabólico. RESULTADOS: Em relação ao CD36, o alelo A do rs1761667 relacionou-se com menor consumo de lipídios totais, gorduras poli e monoinsaturadas, consumo de alimentos de sabor gorduroso, ingestão de óleos vegetais e açúcares totais em obesos. O alelo A do rs1527483 associou-se com menor percentil de pressão arterial diastólica, menor massa gorda e maior massa livre de gordura em obesos. Quanto ao gene TAS1R2, a variante rs9701796 teve maior risco metabólico segundo a razão circunferência da cintura-estatura (RCE), bem como relação com maior consumo de achocolatado em pó em obesos. Já a variante rs35874116 mostrou relação com a menor ingestão de fibras dietéticas em obesos. No TAS2R38, o alelo G do rs1726866 foi associado com menor consumo de gorduras monoinsaturadas e maior consumo de açúcares totais, em obesos. O alelo G do rs713598 mostrou relação com maior consumo de carboidratos, consumo de alimentos de sabor doce, refrigerantes e menor ingestão de fibras pelos indivíduos eutróficos. CONCLUSÃO: Não houve relação entre genótipos e risco de obesidade. Os achados mostram a associação entre polimorfismos dos genes de receptores de sabor com o consumo alimentar, indicando diferenças entre obesos e magros, e alelos de proteção e de risco cardiometabólico, respectivamente dos genes CD36 e TAS1R2 / BACKGROUND: Childhood obesity is a major public health problem and it has a direct impact on the quality of life of children and adolescents, as well as the future risk for development of chronic diseases. The dietary pattern rich in fats and sugars associated to the low intake of dietary fibers, vitamins and minerals is widespread for the rise of obesity. However the factors that contribute to the preference for foods rich in these nutrients are not well established. Taste is recognized as an important predictor of food choices, and polymorphisms in genes encoding its receptors may explain the variability of taste preference and food intake on population. OBJECTIVE: To evaluate the influence of polymorphisms of fat (CD36), sweet (TAS1R2) and bitter (TAS2R38) taste receptor genes in diet and metabolic profile in obese children and adolescents. METHODS: Cross-sectional study with 668 obese children and adolescents and a control group of 135 normal-weight children. The molecular study was made for single nucleotide polymorphisms (SNPs) rs1761667 and rs1527483 of CD36, rs9701796 and rs35874116 of TAS1R2, rs1726866 and rs713598 of TAS2R38, and the analysis of food intake and metabolic profile. RESULTS: In relation to CD36, the A allele of rs1761667 was associated with lower intake of total fat, poly and monounsaturated fats, consumption of fatty flavor food, intake of vegetable oils and total sugars in obese. The A allele of rs1527483 was associated with lower percentile of diastolic blood pressure, lower fat mass and increased fat-free mass in obese. Regarding TAS1R2 gene, the variant rs9701796 was associated to increased metabolic risk according to waist-height ratio, as well as with higher consumption of chocolate powder in obese. The variant rs35874116 showed a lower intake of dietary fiber. In TAS2R38, the G allele of rs1726866 was associated with a lower intake of monounsaturated fat and a higher intake of total sugars in obese. The G allele of rs713598 was related to the higher carbohydrate intake, consumption of sweet tasting food, soda drinks and less fiber intake by normal weight children. CONCLUSION: There was no relationship between genotypes and risk of obesity. The findings show the association between polymorphisms of taste receptor genes with dietary intake, indicating differences between obese and lean children, as well as the protective and risk alleles for cardiometabolic risk in CD36 and TAS1R2, respectively