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LEPR p.Q223R, beta3-AR p.W64R and LEP c.-2548G>A gene variants in obese Brazilian subjects.
- Source :
-
Genetics and molecular research : GMR [Genet Mol Res] 2007 Oct 05; Vol. 6 (4), pp. 1035-43. Date of Electronic Publication: 2007 Oct 05. - Publication Year :
- 2007
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Abstract
- Obesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. The adrenergic receptor beta3 (beta3-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 beta3-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 > or = 30 kg/m2) were screened and compared to 150 lean healthy subjects (63 males, 87 females, BMI < or = 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 beta3-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.
- Subjects :
- Adolescent
Adult
Aged
Alleles
Amino Acid Substitution
Body Mass Index
Brazil
Case-Control Studies
DNA genetics
Female
Gene Frequency
Genotype
Humans
Male
Middle Aged
Obesity pathology
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Genetic Variation
Leptin genetics
Obesity genetics
Receptors, Adrenergic, beta-3 genetics
Receptors, Leptin genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1676-5680
- Volume :
- 6
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Genetics and molecular research : GMR
- Publication Type :
- Academic Journal
- Accession number :
- 18273796