ABSTRACT
Obesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. The adrenergic receptor ¦Â3 (¦Â3-AR), leptin (LEP) and leptin receptor (LEPR) genes have been intensively evaluated in the search of variants that could be related to obesity and its cardiometabolic complications. The results of most of these studies have been controversial. In the present study, we investigated the relationship of the ¦Â3-AR p.W64R, LEP c.-2548G>A and LEPR p.Q223R gene variants with body mass index (BMI), in Brazilian subjects of different genetic backgrounds and ethnic origins. Two hundred obese patients (60 males, 140 females, BMI ¡Ý 30 kg/m2) were screened and compared to 150 lean healthy subjects (63 males, 87 females, BMI ¡Ü 24 kg/m2). Genomic DNA was extracted and amplified by polymerase chain reaction. Polymerase chain reaction products were digested with specific restriction enzymes and separated by electrophoresis. There was no significant difference in the genotype frequency of the ¦Â3-AR p.W64R and the LEP c.-2548G>A polymorphisms, between lean and obese subjects. However, the genotype and allele frequencies of the LEPR p.Q223R variant were significantly different between the normal weight and obese groups. Haplotype analysis has shown an association between the G/G allelic combination of c.-2548G>A LEP and c.668A>G LEPR, in obese subjects. Our results suggest that genetic variability in the leptin receptor is associated with body weight regulation, the LEPR p.Q223R variant being related to BMI increase. The haplotype combination of LEP c.-2548G>A and LEPR p.Q223R variants was related to a 58% increase in obesity risk.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Genetic Variation , Obesity/genetics , /genetics , Alleles , Body Mass Index , Brazil , Case-Control Studies , DNA , Gene Frequency , Obesity/pathology , Polymorphism, Single Nucleotide , Amino Acid Substitution/geneticsABSTRACT
As liproteinas de alta densidade ("High Density Lipoproteins", HDL) tem sido apontadas como provaveis fatores de protecao para a aterosclerose que costuma instalarse mais precoce e rapidamente em diabeticos. O presente estudo foi feito com o objetivo de avaliar o comportamento dos niveis de HDL - colesterol num grupo de diabeticos insulino-dependentes e numa populacao controle pareando-se idade e sexo.Nao se observou diferenca significativa entre os grupos, embora se tenham constatado niveis mais elevados dessas lipoproteinas nos diabeticos