This study was carried out to investigate the frequency of genetic variants related to body mass index (BMI) and type 2 diabetes (T2D) and evaluating the potential impact of risk alleles on susceptibility to these disorders in six indigenous peoples from Brazilian Amazon region. The majority of Fst values for pairwise population comparisons among the indigenous groups are low or moderate. The indigenous people show high values of differentiation with Africans, Europeans and Southeast Asians and moderate values with East Asian and American populations, as expected. The allelic frequencies among indigenous indicate that the majority of associations observed with T2D in continental populations can be replicated in native Amazonians. The genetic risk scores calculated for T2D in indigenous are high and similar to those calculated for Americans and East Asians, while the estimates obtained for obesity are low, probably due to the low frequencies of the risk allele of the FTO gene found in our samples. ADRB3 -rs4994 and ABCC8 -rs1799854 genes showed a significant association with BMI and waist circumference, and the KCNJ11 -rs5219 gene with hyperglycemia. These results emphasize the importance of knowing the genetic variability underlying complex genetic diseases in indigenous peoples and the search for particular or rare variants.
Pessoas com Síndrome de Down podem, frequentemente, apresentar doença cardíaca congênita, hipotireoidismo, distúrbios gastrointestinais e tendência ao sobrepeso e obesidade, comprometendo gravemente a saúde. O objetivo deste trabalho foi descrever a composição corporal de adultos com Síndrome de Down - SD e excesso de peso, atendidos em um Hospital Universitário. Trata-se de um estudo transversal e descritivo realizado na cidade de Belém do Pará, no ano de 2017, onde os participantes com SD, foram avaliados para determinação da composição corporal com a utilização do aparelho de bioimpedância elétrica InBody230. Foram avaliados 13 indivíduos de ambos os sexos com idades variando entre 20 e 40 anos. A média de peso dos indivíduos do sexo masculino e feminino foi de 71,8 kg e 69,2 kg respectivamente, a média de Índice de Massa Corporal - IMC foi de 31,27 kg/m² para os homens e 34,08 kg/m² para as mulheres, classificada em obesidade. A maioria dos indivíduos apresenta Massa Muscular Esquelética - MME e Massa Livre de Gordura - MLG dentro da faixa de normalidade, porém os valores de Massa de Gordura (MG), assim como a Relação Cintura Quadril - RCQ de todos os indivíduos estão elevados. O acompanhamento individualizado da composição corporal, por meio da bioimpedância elétrica, mostrou ser um instrumento eficaz para avaliação do estado nutricional dessa população.Palavras-chave: Síndrome de Down. Composição Corporal. Bioimpedância Elétrica.AbstractPeople with Down Syndrome can often have congenital heart disease, hypothyroidism, gastrointestinal disorders, and tendency to overweight and obesity severely compromising health. The objective of this study was to describe the body composition in adults with Down Syndrome and overweight treated in a University Hospital. This is a cross-sectional and descriptive study carried out in the city of Belém do Pará in 2017, where the participants with DS, were evaluated to determine the body composition with the use of InBody 230 electric bioimpedance device. Eight individuals of both sexes with ages varying between 20 and 40 years were evaluated. The mean weight of the male and female subjects was 71.8 kg and 69.2 kg respectively, the mean Body Mass Index (BMI) was 31.27 kg / m² for men and 34.08 kg / m² for women, classified as obesity. The majority of individuals had a Skeletal Muscle Mass (MME) and Fat Free Mass (MLG) within the normal range, but the values of Mass of Fat (MG), as well as the Hip Waist Ratio (WHR) of all individuals are high. The individualized monitoring of body composition through electric bioimpedance proved to be an effective tool for assessing the nutritional status of this population.Keywords: Down Syndrome. Body composition. Electric impedance.
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