LEPR p.Q223R, beta3-AR p.W64R and LEP c.-2548G>A gene variants in obese Brazilian subjects

dc.creatorDuarte, S. F;
dc.creatorFrancischetti, E. A.
dc.creatorGenulhu, V.A.
dc.creatorCabello, P. H.
dc.creatorPimentel, M. M;
dc.date2018-09-26T16:20:14Z
dc.date2018-09-26T16:20:14Z
dc.date2007
dc.date.accessioned2023-09-26T22:06:29Z
dc.date.available2023-09-26T22:06:29Z
dc.identifierDUARTE, S. F. P. et al. LEPR p.Q223R, β 3-AR p.W64R and LEP c.2548G>A gene variants in obese Brazilian subjects. brGenetics and Molecular Research, v.6, n.4, p.1035-1043, 2007.
dc.identifier1676-5680
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/29077
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8874835
dc.descriptionObesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. The adrenergic receptor β3 ( β 3-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 β 3-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 ≥ 30 kg/m2) were screened and compared to 150 lean healthy subjects (63 males, 87 females, BMI ≤ 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 β 3-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.
dc.formatapplication/pdf
dc.languageeng
dc.publisherFundação de Pesquisas Científicas de Ribeirão Preto
dc.rightsopen access
dc.subjectpolimorfismo genético
dc.subjectObesidade
dc.subjectLeptina
dc.subjectreceptores para Leptina
dc.subjectGenetic polymorphism
dc.subjectObesity
dc.subjectβ3-adrenergic receptor
dc.subjectLeptin
dc.subjectLeptin receptor
dc.subjectReceptores para Leptina
dc.titleLEPR p.Q223R, beta3-AR p.W64R and LEP c.-2548G>A gene variants in obese Brazilian subjects
dc.typeArticle


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