Search

In this paper, we describe a dynamic-model as a strategy to teach DNA transcription and translation in an active way. This activity aims to provide learning beyond memorisation through the simulati...

We aimed to investigate whether the expression levels and polymorphisms in the ADRB2 gene have influenced the anthropometric and cardiometabolic outcomes changes in obese/overweight children submitted to physical exercise programs. This longitudinal study included 197 overweight or obese children aged 10-16 years, submitted to physical exercise programs - three sessions per week for 12 weeks. Anthropometric and cardiometabolic profile was collected before and after interventions. The ADRB2 gene expression levels were also measured in these two moments in a small intervention group (n = 17) and a control group (n = 18). Arg16Gly and Gln27Glu polymorphisms were genotyped. A positive correlation between ADRB2 expression and loss of body fat (%) (p = 0.038) was observed, which remained after sex and BMI change corrections. Carriers of the Glu27Glu genotype presented a better response to physical exercise programs regarding their triglycerides levels and triglyceride-glucose index (p = 0.001 for both). The participants' responsiveness to physical exercise programs showed variation due to the ADRB2 gene expression and the Gln27Glu polymorphism. A more significant loss of body fat was associated with higher levels of ADRB2 expression, and the Glu27Glu genotype was associated with a better cardiometabolic response. The Arg16Gly polymorphism did not show interaction with the responsiveness to physical exercise.

Many factors influence the incidence of type 2 diabetes mellitus (T2DM). Here, we investigated the associations between socio-demographic characteristics and familial history with the 5-year incidence of T2DM in a family-based study conducted in Brazil. T2DM was defined as baseline fasting blood glucose ≥ 126 mg/dL or the use of any hypoglycaemic drug. We excluded individuals with T2DM at baseline or if they did not attend two examination cycles. After exclusions, we evaluated a sample of 1,125 participants, part of the Baependi Heart Study (BHS). Mixed-effects logistic regression models were used to assess T2DM incident given different characteristics. At the 5-year follow-up, the incidence of T2DM was 6.7% (7.2% men and 6.3% women). After adjusting for age, sex, and education status, the model that combined marital and occupation status, skin color, and familial history of T2DM provided the best prediction for T2DM incidence. Only marital status was independently associated with T2DM incidence. Individuals that remained married, despite having significantly increased their weight, were significantly less likely to develop diabetes than their divorced counterparts.

Genes can influence lipid profile and anthropometric variables related to obesity. The present study aimed to verify if variants of the APOE, APOB, ADIPOQ, HSD11β1, and PLIN4 genes are associated with lipid levels or anthropometric variables in a sample comprised of 393 Euro-Brazilian children and adolescents. DNA was genotyped by TaqMan allelic discrimination assay. The ε4 and ε2 alleles of the APOE gene were associated respectively with lower high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) levels (p=0.015 and p=0.012, respectively), while the ε3 allele was associated with higher abdominal circumference (p=0.0416) and excess weight (p=0.0001). The G allele (rs846910) of the HSD11β1 gene was also associated with excess weight (p=0.039). No other association was found. Our results indicate that the ε4 and ε2 alleles could contribute to lower HDL-C and LDL-C levels, respectively, furthermore, the ε3 allele and the G allele (rs846910) of HSD11β1 gene may be risk factors for excess of weight.These findings are very important because we observed that some genetic variants influence the lipid profile and anthropometric variables early in life.

Objective: To analyze the association between the Trp64Arg polymorphism of the ADRB3 gene, maximal fat oxidation rates and the lipid profile levels in non-obese adolescents. Methods: 72 schoolchildren, of both genders, aged between 11 and 17 years, participated in the study. The anthropometric and body composition variables, in addition to total cholesterol, HDL-c, LDL-c, triglycerides, insulin, and basal glycemia, were evaluated. The sample was divided into two groups according to the presence or absence of the polymorphism: non-carriers of the Arg64 allele, i.e., homozygous (Trp64Trp: n = 54), and carriers of the Arg64 allele (Trp64Arg + Arg64Arg: n = 18), in which the frequency of the Arg64 allele was 15.2%. The maximal oxygen uptake and peak of oxygen uptake during exercise were obtained through the symptom-limited, submaximal treadmill test. Maximal fat oxidation was determined according to the ventilatory ratio proposed in Lusk's table. Results: Adolescents carrying the less frequent allele (Trp64Arg and Arg64Arg) had higher LDL-c levels (p = 0.031) and lower maximal fat oxidation rates (p = 0.038) when compared with non-carriers (Trp64Trp). Conclusions: Although the physiological processes related to lipolysis and lipid metabolism are complex, the presence of the Arg 64 allele was associated with lower rates of FATMAX during aerobic exercise, as well as with higher levels of LDL-c in adolescents. Resumo: Objetivo: Analisar a associação entre o polimorfismo Trp64Arg do gene ADRB3, as taxas de oxidação máxima de gorduras e as concentrações do perfil lipídico em adolescentes não obesos. Métodos: Participaram do estudo 72 escolares, de ambos os sexos, com idade entre 11 e 17 anos. Foram avaliadas as variáveis antropométricas e de composição corporal, além do colesterol total, lipoproteina de alta densidade, lipoproteina de baixa densidade, triglicerídeos; insulina e glicemia basal. A amostra foi dividida em dois grupos, segundo a presença ou não do polimorfismo: não portadores do alelo Arg64, ou seja, homozigotos (Trp64Trp: n = 54) e portadores do alelo Arg64 (Trp64Arg + Arg64Arg: n = 18), em que a frequência do alelo Arg64 foi de 15,2%. O consumo máximo de oxigênio e pico de consumo máximo de oxigênio durante o exercício foram obtidos por meio do teste aeróbio submáximo de sintoma limitado em esteira. A oxidação máxima de gorduras foi determinada de acordo com a razão de trocas ventilatórias propostas na Tabela de Lusk. Resultados: Os adolescentes portadores do alelo menos frequente (Trp64Arg e Arg64Arg) apresentaram maiores concentrações de lipoproteina de baixa densidade (p = 0,031) e menores taxas de oxidação máxima de gorduras (p = 0,038) quando comparados aos não portadores (Trp64Trp). Conclusões: Embora os processos fisiológicos relacionados à lipólise e ao metabolismo de lipídeos sejam complexos, a presença do alelo Arg64 associou-se a menores taxas de FATMAX durante exercício aeróbio, bem como maiores níveis de lipoproteina de baixa densidade em adolescentes. Keywords: Genetic polymorphism, Exercise, Lipid metabolism, Lipolysis, Adolescents, Palavras-chave: Polimorfismo genético, Exercício, Metabolismo de lipídeos, Lipólise, Adolescentes

The fat mass and obesity-associated (FTO) gene is involved in energy homeostasis. The A allele of the rs9939609 (SNP; T>A) is associated with obesity and higher food intake, while its effect in energy expenditure remains unclear. The aim of this study is to examine whether FTO rs9939609 is associated with the anthropometric outcomes of a physical exercise program and a dietary intervention. We studied two independent samples. The first was composed by children and adolescents in which overweight and obese individuals were submitted to a physical exercise program (n = 136) and normal weight participants served as a control group (n = 172). The second sample was composed by obese women submitted to a hypocaloric dietary intervention (n = 126). Physical exercise and dietary intervention were effective, independently of genotype. We found no association of FTO rs9939609 with obesity in children and adolescents (p = 0.67). The rs9939609 affected the response to dietary intervention in obese women: A allele carriers reduced 2.7 cm less of abdominal circumference (AC) than homozygous TT (p = 0.04), while no effect was observed in response to physical exercise in overweight and obese children and adolescents. The A allele is associated with a worse outcome in response to the hypocaloric dietary intervention regarding abdominal circumference reduction; the same allele did not show interaction with any anthropometric outcomes in response to the exercise program applied.

Introduction: Studies of association between obesity and genetic factors have demonstrated a significant contribution of polymorphisms related to body fat distribution and subclinical inflammatory process. Objective: To investigate the association between genotypes of the Gln27Glu polymorphism of the ADRB2 gene and indicators of adiposity, inflammatory markers, metabolic parameters and parameters of physical fitness in overweight adolescents. Methods: A total of 44 male and female adolescents, aged between 13 and 17 years, with positive clinical diagnosis of overweight, were divided into two groups according to the Gln27Glu polymorphism genotypes of the ADRB2 gene: a) Group of carriers of the 27Glu allele (Gln27Glu/Glu27Glu) (n = 22); b) Group of non-carriers of the 27Glu allele (Gln27Gln) (n = 22). Both groups were evaluated for body composition, sexual maturation, cardiorespiratory fitness variables and indicators of muscle strength. Basal glycemia and insulin, lipid profile and inflammatory profile were measured. Abdominal subcutaneous and visceral adiposities were evaluated by ultrasonography. Genotyping of the Gln27Glu polymorphism of the ADRB2 gene was performed by the Taqman allelic discrimination assay. Results: The genotype frequency found was: Gln/Gln (n = 22) (50.0%), Gln/Glu (n = 18) (41.0%) and Glu/Glu (n = 4) %). The frequency of the 27Glu allele was 29.5%. The group of adolescent carriers of the 27Glu allele of the ADRB2 gene presented higher mean adiposity indicators (abdominal circumference, trunk fat mass and visceral fat), as well as lower IL-10 concentrations when compared to non-carriers. Conclusions: The 27Glu allele was associated with adiposity indicators in overweight adolescents, while subcutaneous abdominal fat exhibited an inverse relationship with inflammatory variables and maximum oxygen uptake, which may result in more damage to health. Level of evidence III; Case-control study. RESUMO Introdução: Estudos de associação entre a obesidade e fatores genéticos têm demonstrado a significativa contribuição de polimorfismos relacionados à distribuição de gordura corporal e processo inflamatório subclínico. Objetivo: Investigar a associação entre os genótipos do polimorfismo Gln27Glu do gene ADRB2 e indicadores de adiposidade, marcadores inflamatórios, parâmetros metabólicos e de aptidão física em adolescentes com excesso de peso. Métodos: Participaram 44 adolescentes, de ambos os sexos, com idade entre 13 e 17 anos, com diagnóstico clínico positivo de excesso de peso, divididos em dois grupos conforme os genótipos do polimorfismo Gln27Glu do gene ADRB2: a) Grupo de portadores do alelo 27Glu (Gln27Glu/Glu27Glu) (n=22); b) Grupo de não portadores do alelo 27Glu (Gln27Gln) (n=22). Ambos os grupos foram avaliados quanto à composição corporal, maturação sexual, variáveis de aptidão cardiorrespiratória e indicadores de força muscular. Foram dosados glicemia e insulina basais, perfil lipídico e perfil inflamatório. As adiposidades abdominais subcutânea e visceral foram avaliadas através de ultrassonografia. A genotipagem do polimorfismo Gln27Glu do gene ADRB2 foi realizada através do ensaio de discriminação alélica Taqman. Resultados: A frequência genotípica encontrada foi: Gln/Gln (n=22) (50,0%), Gln/Glu (n=18) (41,0%) e Glu/Glu (n=4) (9,0%). A frequência do alelo do 27Glu foi de 29,5%. O grupo de adolescentes portadores do alelo 27Glu do gene ADRB2 apresentou maiores médias de indicadores de adiposidade (circunferência abdominal, massa gorda troncular e gordura visceral), assim como menores concentrações de IL-10 quando comparados aos não portadores. Conclusões: O alelo 27Glu apresentou associação com os indicadores de adiposidade em adolescentes com excesso de peso, assim como a gordura abdominal subcutânea demonstrou relação inversa com as variáveis inflamatórias e o consumo máximo de oxigênio, podendo resultar em maiores prejuízos à saúde. Nível de evidência III; Estudo de caso-controle. RESUMEN Introducción: Estudios de asociación entre la obesidad y factores genéticos han demostrado la significativa contribución de polimorfismos relacionados a la distribución de grasa corporal y proceso inflamatorio subclínico. Objetivo: Investigar la asociación entre los genotipos del polimorfismo Gln27Glu del gen ADRB2 e indicadores de adiposidad, marcadores inflamatorios, parámetros metabólicos y de aptitud física en adolescentes con exceso de peso. Métodos: Participaron 44 adolescentes, de ambos sexos, con edad entre 13 y 17 años, con diagnóstico clínico positivo de exceso de peso, divididos en dos grupos según los genotipos del polimorfismo Gln27Glu del gen ADRB2: a) Grupo de portadores del alelo 27Glu (Gln27Glu/Glu27Glu) (n = 22); b) Grupo de no portadores del alelo 27Glu (Gln27Gln) (n = 22). Ambos grupos fueron evaluados cuanto a la composición corporal, madurez sexual, variables de aptitud cardiorrespiratoria e indicadores de fuerza muscular. Fueron dosificadas glucemia e insulina basales, perfil lipídico y perfil inflamatorio. Las adiposidades abdominales subcutánea y visceral fueron evaluadas a través de ultrasonografía. El genotipado del polimorfismo Gln27Glu del gen ADRB2 fue realizado a través del ensayo de discriminación alélica Taqman. Resultados: La frecuencia genotípica encontrada fue: Gln/Gln (n = 22) (50,0%), Gln/Glu (n = 18) (41,0%) y Glu/Glu (n = 4) (9,0%). La frecuencia del alelo del 27Glu fue del 29,5%. El grupo de adolescentes portadores del alelo 27Glu del gen ADRB2 presentó mayores promedios de indicadores de adiposidad (circunferencia abdominal, masa grasa troncular y grasa visceral), así como menores concentraciones de IL-10, en comparación con los no portadores. Conclusiones: El alelo 27Glu presentó asociación con los indicadores de adiposidad en adolescentes con exceso de peso, así como la grasa abdominal subcutánea demostró relación inversa con las variables inflamatorias y el consumo máximo de oxígeno, lo que puede resultar en mayores perjuicios a la salud. Nivel de Evidencia III; Estudio de caso-control.

Objective: To determine the influence of polymorphisms of the beta-2 adrenergic receptor (ADRB2) in triggering exercise-induced bronchospasm (EIB) in adolescents. Methods: The subjects were divided into two groups: present EIB (EIB+) (n=45) and absent EIB (EIB−) (n=115). The bronchial provocation test with exercise was performed with a protocol that consisted of walking/running for at least eight minutes at high intensity, i.e., >85% of maximum heart rate, considering EIB+ as a 10% decrease in forced expiratory volume in one second (FEV1). The genotyping of the ADRB2 gene was performed by the Taqman method, using the Step One Plus system. Independent t-test, Mann–Whitney and Chi-square tests, as well as Spearman's correlation coefficient were used for the statistical analysis. Results: Age, body weight, height, FEV1, FVC and FEV1/FVC ratio were lower in the EIB+ group when compared to EIB− (p

Recent evidences had shown activation of TLR (toll-like receptors) and NLR (nod-like receptors) in response to imbalance in nutrients intake, such as lipid and glucose. The main aim of this study was to investigate possible associations between 11 SNPs in TLR2, TLR4, NLRC4, CARD8 and NEK7 genes and lipid and glucose metabolism. Sample was composed by healthy children and adolescents (n = 158) and adults (n = 115). DNA extraction was obtained by salting-out and sample genotyping by matrix-assisted laser desorption ionization time-of-flight mass spectrometry based system. LDL-cholesterol, HDL-cholesterol, triglycerides, total cholesterol, glucose and insulin were measured by standard automated methods. Means were compared by t-test or Mann-Whitney test. Univariate and multivariate logistic regression were used to verify association between polymorphisms and lipid and glucose markers. Seven polymorphisms in 5 genes were associated with lipid and glucose parameters. For lipid parameters, the following associations were found: higher LDL-C levels and C allele of rs1554973 (TLR4) and G allele of rs6671879 (NEK7); higher HDL-cholesterol levels and A allele of rs13105517 (TLR2); higher total cholesterol and TT genotype of rs3804099 (TLR2) and G allele of rs6671879 (NEK7); higher triglycerides levels and G allele of rs455060 (NLRC4). For glucose parameters associations were found between C allele of rs7258674 (CARD8) and higher glucose levels, and between C allele of rs212704 (NLRC4) and G allele of rs455060 (NLRC4) and insulin levels. These findings indicate a relationship between polymorphisms of TLRs and NLRs genes and markers of lipid and glucose metabolism.

Background: The objective of the study was to investigate the response of 64Arg allele carriers of the ADRB3 gene (Trp64Arg polymorphism) in the anthropometric, cardiorespiratory and metabolic variables in overweight adolescents after a 12-week aerobic exercise and nutritional program. Methods: A total of 92 overweight adolescents, 10–16 years old and of both genders, participated. Body composition, waist circumference (WC), pubertal stage status, blood pressure, glucose, insulin and lipid profile and direct maximal oxygen uptake were assessed at baseline and after 12 weeks of a training program. The homeostasis metabolic assessments [homeostasis model assessment of insulin resistance (HOMA-IR)] and quantitative insulin sensitivity check index (QUICKI) were determined and the Trp64Arg polymorphism of the ADRB3 gene was investigated by Taqman single nucleotide polymorphism (SNP) genotyping assays. Exercise sessions consisted of 100-min aerobic exercise and 20-min stretching, 3 times a week, totalizing 36 sessions. Multivariate analysis of variance (MANOVA), analysis of covariance (ANCOVA) and effect size were used for variables, with p Results: In baseline, HOMA-IR was higher in carriers of the 64Arg allele and decreased more after 12 weeks than in non-carriers (p=0.01). The anthropometric, physical fitness and metabolic profiles had similar responses after training in carriers and non-carriers. Conclusions: Overweight adolescents present changes in body composition and physical fitness, independent of Trp64Arg genotypes. However, a 12-week aerobic exercise and nutritional program promoted greater reductions in insulin resistance in carriers of the 64Arg allele.

Aim To compare the anthropometric, metabolic, and inflammatory parameters of overweight adolescents after 12-weeks of resistance and aerobic training (CT), taking into account the Gln27Glu polymorphism of the β2 adrenergic receptor (ADRB2) gene. Methods Forty-seven adolescents (15.05±1.07y) were assigned to one of four groups, according to the presence or absence of the Glu27 allele: CT (CarrierT n=11; NoncarrierT n=11) or control (CarrierC n=13; NoncarrierC n=12). Body composition, abdominal fat, maturation, fitness, metabolic and lipid profile, inflammatory markers were assessed. The CT consisted of six resistance exercises, followed by 30 min of walking/running at 50-80% VO2max, totaling 60 min/session, three times a week. A mixed-model factorial ANOVA was used to compare variables at baseline and after 12-weeks. Results TC was effective in reducing total fat mass (NoncarrierT ES=.45, CarrierT ES=.27) and subcutaneous abdominal fat (NoncarrierT ES=.48, CarrierT ES=.46) and increasing lean mass (NoncarrierT ES=.58, CarrierT ES=.60) and fitness. CarrierT group showed a reduction in leptin (ES=.49). Conclusion The responses of body composition and physical fitness to TC were not influenced by the presence of the Gln27Glu polymorphism. However, only the Glu27 allele carriers showed reductions in leptin after 12-weeks. Besides, a lack of intervention caused obesogenic effects, especially in Glu27carriers.

Purpose. The rs9939609 SNP (T > A) inFTOgene is associated with obesity and type 2 diabetes. The present study aimed at verifying whether this SNP influenced biochemical outcomes of children and adolescents who are overweight/obese submitted to a program of physical exercise and also if there was influence on basal levels of these biochemical variables.Methods. The sample was composed by 432 children and adolescents grouped in three ways (obese, overweight, and normal weight); of these, 135 children and adoloescents who are obese and overweight were submitted to a physical exercise program for 12 weeks. All were genotyped by TaqMan SNP genotyping assay.Results. The children and adolescents who are overweight/obese and carriers of AA genotype had higher levels of insulin (p=0.03) and HOMA (p=0.007) and lower levels of glucose (p=0.003), but the SNP did not modulate the response to physical exercise.Conclusions. In our study, the rs9939609 AA genotype was associated with parameters related to insulin metabolism but did not interact with physical exercise.

Adiponectin is an adipokine inversely correlated with obesity, which has beneficial effect on insulin resistance and lipid metabolism. Considering its potential as a therapeutic target in the metabolic disorder contexts, and in order to add knowledge in the area, our study evaluated the ADIPOQ 276G > T polymorphism effect on adiponectin levels, and on lipoproteins of clinical interest in a population sample composed of 211 healthy individuals. Significant effects were observed only among men: the carriers of heterozygous genotype (GT) showed high levels of adiponectin (p = 0.018), while the rare homozygous genotype (TT) gave its carriers a negative phenotype, represented by higher levels of low density lipoprotein cholesterol (LDL-C) (p = 0.004 and p = 0.005) and total cholesterol (TC) (p = 0.010 and p = 0.005) compared to carriers of other genotypes (GG and GT respectively), the independent effect of SNP on LDL-C and TC levels was confirmed by multiple regression analysis (p = 0.008 and p = 0.044). We found no evidence of correlation between circulating adiponectin levels and biochemical markers, which suggests, therefore, an SNP 276G > T independent effect on adiponectin levels and on lipoprotein metabolism in men enrolled in this study., Highlights • Gender-dependent association of ADIPOQ 276G > T SNP. • Heterozygous men had higher levels of circulating adiponectin. • Rare homozygous men had higher TC and LDL-C levels.

Objective Butyrylcholinesterase (BChE) activity has been associated with obesity, lipid concentrations, and CHE2 locus phenotypes. This, the aim of this study was to evaluate the effects of an energetic restriction diet intervention on anthropometrical and biochemical variables and on absolute and relative BChE activity in CHE2 C5+ and CHE2 C5- individuals. Subjects and methods One hundred eleven premenopausal obese women from Southern Brazil participated in an energetic restriction diet intervention (deficit of 2500 kJ/day) for 8 weeks. Their anthropometric and biochemical parameters were evaluated before and after the intervention. Plasma BChE activity was measured, and BChE bands in plasma and CHE2 locus phenotypes were detected by electrophoresis. Results The dietetic intervention decreased anthropometric and biochemical parameters as well as absolute BChE activity and relative activity of the G4 band. The CHE2 C5+ phenotype presented a different effect when compared with the CHE2 C5- phenotype. The CHE2 C5+ phenotype showed an effect in absolute BChE activity and in the relative activity of the G4 form, maintaining higher BChE activity regardless of the metabolic changes. Conclusion In our study, 8 weeks was not sufficient time to lower the body mass index to normal, but it was enough to significantly reduce the absolute BChE activity, which became similar to the levels in nonobese individuals. CHE2 C5+ individuals were resistant to the decrease in BChE activity compared to CHE2 C5- individuals. This shows that the diet did not affect the CHE2 and G4 fraction complex and that the products of the CHE2 locus in association with BChE have a role in energy metabolism, maintaining high levels of enzymatic activity even after dietary intervention.

Butyrylcholinesterase (BChE) activity and polymorphisms in its encoding gene had previously been associated with metabolic traits of obesity. This study investigated the association of three single nucleotide polymorphisms (SNPs) in the BCHE gene: -116G > A (rs1126680), 1615GA (rs1803274), 1914A < G (rs3495), with obesity and lipid metabolism markers, body mass index (BMI), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), triglyceride (TG) levels, and BChE enzymatic activity in obese (BMI≥30/n = 226) and non-obese women (BMI < 25/n = 81). BCHE SNPs genotyping was obtained by TaqMan allelic discrimination assay and by RFLP-PCR. Plasmatic BChE activity was measured using propionylthiocholine as substrate. Similar allele frequencies were found in obese and non-obese women for the three studied SNPs (p > 0.05). The dominant and recessive models were tested, and different effects were found. The -116A allele showed a dominant effect in BChE activity reduction in both non-obese and obese women (p = 0.045 and p < 0.001, respectively). The 1914A > G and 1615GA SNPs influenced the TG levels only in obese women. The 1914G and the 1615A alleles were associated with decreased plasma levels of TG. Thus, our results suggest that the obesity condition, characterized by loss of energy homeostasis, is modulated by BCHE polymorphisms.

The individual response to diet may be influenced by gene polymorphisms. This study hypothesized that ADRB2 (Gln27Glu, rs1042714 and Arg16Gly, rs1042713), ADRB3 (Trp64Arg, rs4994) and GHRL (Leu72Met, rs696217) polymorphisms moderate weight loss. The study was a seven weeks dietary weight loss intervention with Brazilian adult obese women (n = 109). The body mass index (BMI) was calculated and polymorphisms in these genes were assessed by real-time PCR assays. Two-way repeated-measures ANOVA (2 x 2) were used to analyze the intervention effect between polymorphisms and BMI over the period and after stratification for age and socioeconomic status (SES). The weight loss intervention resulted in decreased BMI over the seven-week period (p < 0.001), for high and low SES (p < 0.05) and mainly for participants with 30-49 y. The intervention did not result in a statistically significant difference in weight loss between polymorphism carriers and non-carriers, and although, the ADRB2, ADRB3 and GHRL polymorphisms did not moderate weight loss, the Gln27Glu polymorphism carriers showed a lower BMI compared to non-carriers in the low SES (p = 0.018) and the 30-39 y (p = 0.036) groups, suggesting a role for this polymorphism related to BMI control.

Summary The present study investigated 23 SNPs in the 5′URR promoter region and the 14 bp ins/del polymorphism at the 3′UTR region of the HLA-G gene in 150 individuals with Afro-Brazilian ancestry. Three haplotypes were found to be the most frequent. Comparing these polymorphisms in other samples, our data suggest that Afro-Brazilians are more similar to the Euro-Brazilians than to Hutterite population.

HLA-E is a non-classical I (Ib) gene which has limited polymorphism and low levels of tissue expression. Currently, 11 alleles are described in the literature with only three protein products. In the present study we investigated HLA-E gene variations at exons 2 and 3 and calculated allele, genotype and haplotype frequencies in a sample of 152 individuals who reported themselves as being Afro-descendants and who are voluntary bone marrow donors living in the state of Parana, Brazil. The most frequent allele in the sample analyzed was the E∗01:01 (59.21%). The presence of the E∗01:04 allele was not detected suggesting that it has a very low worldwide frequency or that this allele may be an artifact of sequencing. We reported the most frequent alleles found as well as genotypes and haplotypes and compared our results with the few other studies found in the literature. This study is the first to investigate Afro-descendants from the South of Brazil.

ResumoObjetivoDeterminar a influência dos polimorfismos dos receptores adrenérgicos beta 2 (ADRB2) no desencadeamento de broncoespasmo induzido pelo exercício (BIE) em adolescentes.MétodosOs sujeitos foram divididos em dois grupos: BIE presente (BIE+) (n=45) e BIE ausente (BIE−) (n=115). O teste de broncoprovocação com exercício foi feito com protocolo que consistiu em caminhar/correr durante no mínimo oito minutos em intensidade superior a 85% da frequência cardíaca máxima, considerando como BIE presente uma queda de 10% do volume expiratório forçado no primeiro segundo (VEF1). A genotipagem do gene ADRB2 foi feita pelo método Taqman por meio do aparelho Step One Plus. Para análise estatística usaram‐se os testes t independente, U de Mann‐Whitney, qui‐quadrado e coeficiente de correlação de Spearman.ResultadosIdade, massa corporal, estatura, VEF1, CVF e relação VEF1/CVF foram menores no grupo BIE+ em comparação com o BIE− (p85% of maximum heart rate, considering EIB+ as a 10% decrease in forced expiratory volume in one second (FEV1). The genotyping of the ADRB2 gene was performed by the Taqman method, using the Step One Plus system. Independent t‐test, Mann‐Whitney and Chi‐square tests, as well as Spearman's correlation coefficient were used for the statistical analysis.ResultsAge, body weight, height, FEV1, FVC and FEV1/FVC ratio were lower in the EIB+ group when compared to EIB− (p