OBJETIVO: Verificar se a presença do polimorfismo N363S do gene do receptor de glucocorticoide estaria associada, em indivíduos obesos, à presença de adiposidade visceral pela tomografia computadorizada, e sobre o impacto desta variante genética no perfil metabólico. MÉTODOS: A variante N363S do receptor do glicocorticoide foi verificada em um grupo de 295 indivíduos brasileiros, sendo 295 obesos e 100 com peso normal. Com base na genotipagem, os indivíduos obesos carreadores do polimorfismo N363S foram pareados com obesos normais. O grupo com polimorfismo foi submetido a exames de tomografia computadorizada abdominal e laboratoriais para a caracterização de seu perfil metabólico. RESULTADOS: Dez indivíduos eram heterozigotos para a variante AG (3,4%), sendo oito obesos (4,1%) e dois não-obesos (2%). Não foram encontradas diferenças na quantidade de adiposidade visceral (145,8 ± 49,9 versus 147,7 ± 48,8 cm²; p = 0,92) baseados no TC de abdômen. No entanto, os indivíduos carreadores do N363S SNP (single nucleotide polymorphism) apresentaram tendência a perfil metabólico desfavorável. CONCLUSÃO: O polimorfismo N363S do gene do receptor de glucocorticoide teve prevalência baixa na população estudada. A sua presença pode contribuir para a deterioração do perfil metabólico desses indivíduos.

OBJECTIVE: To verify whether N363S polymorphism of the glucocorticoid receptor-gene can be associated to visceral fat by CT scan in obese individuals, and the impact of this variant on metabolic profile. METHODS: The N363S variant was screened in 295 Brazilians, 195 were obese and 100 presented normal weight. Based on genotype, obese N363S SNP carriers were paired with obese wild-type subjects. This group was submitted to a CT scan and metabolic profile assessment. RESULTS: Ten subjects were found to be heterozygous for the variant (A/G genotype frequency 3.4%), 8 (4.1%) obese and 2 (2.0%) non-obese. No differences were reported for visceral adiposity area (145.8 ± 49.9 vs.147.7 ± 48.8 cm²; p = 0.92) based on CT scan results but N363S SNP carriers showed a proneness to unfavorable metabolic changes. CONCLUSION: The N363S polymorphism prevalence is low in the Brazilian population, although its presence may contribute to the worsening of individuals' metabolic profiles.

Há alguns relatos na literatura sugerindo associação entre polimorfismos do receptor beta2-adrenérgico com obesidade e outros com hipertensão arterial. O objetivo do nosso estudo foi estudar a freqüência de um polimorfismo do receptor beta2 adrenérgico (Gln27Glu) em pacientes obesos (BMI 48 ± 8,2kg/m²) e relacioná-lo com hipertensão arterial, e níveis de triglicérides, colesterol, insulina e glicose no sangue. Encontramos associação deste polimorfismo em obesos com hipertensão arterial.

beta2-adrenergic receptors (beta2AR) are membrane-bound receptors, which upon binding the endogenous cathecolamines epinephrine and nore-pinephrine signal to the interior of cells via stimulatory guanine nucleotide-binding protein Gs. The sympathetic nervous system activation stimulates energy mobilization and utilization in the adipose tissue that is a favored target for high-energy substrate storage, mobilization and utilization. Adrenergic responsiveness may be altered in obesity and could be an important factor in the pathogenesis and maintenance of obesity state. In the hypertensive state there is physiological and biochemical evidence that b-adrenergic responsiveness is diminished in the face of increased sympathetic tone. Recently, several different polymorphic forms of the human beta2AR have been identified in general population, including N-terminal substitutions of glutamine (Gln) for glutamic acid (Glu) at position 27. The aim of this study was to investigate the potential interaction between the beta2AR (Gln27Glu) polymorphism and obesity accumulation and hypertension in morbidly obese subjects. The Ita I genotypes of beta2AR were established using RFLP methods in 135 individuals with BMI 48 ± 8.02kg/m². The frequency of Gln/Glu was 31.9% and in the homozygous Glu/Glu was 12.6%. No association was found between BMI, weight gain during the past years and the Ita I genotypes and neither was associated with levels of triglycerides, cholesterol, insulin and glucose. Positive association was found between blood pressure (systolic and diastolic) and presence of polymorphism. The results indicate at the first time that presence of polymorphism 27Glu may provide a mechanism for enhanced vascular reactivity and identify a candidate gene for hypertension in this obesity group.