59º Congresso Brasileiro de Genética
Resumos do 59o Congresso Brasileiro de Genética • 16 a 19 de setembro de 2013
Hotel Monte Real Resort • Águas de Lindóia • SP • Brasil
www.sbg.org.br - ISBN 978-85-89109-06-2
236
RARRES2 GENE POLYMORPHISM IS
ASSOCIATED WITH THE DEVELOPMENT OF
SEVERE OBESITY IN PATIENTS OF RIO DE
JANEIRO
FONSECA, ACP1; CABRAL, LA1, MARTINS, RS1; CARNEIRO, JRI2,3; CABELLO, PH1; CABELLO, GMK1
Fundação Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, RJ; 2Hospital Universitário Clementino Fraga Filho, UFRJ, Rio de
Janeiro, RJ; 3Grupo de Resgate a Autoestima e Cidadania do Obeso, GRACO, Rio de Janeiro, RJ
1
[email protected]
Keywords: Obesity, polymorphism, gene
Obesity is a serious health problem worldwide and has been a major cause of morbidity and mortality associated with
an increased risk for some common diseases such as diabetes mellitus type 2, cardiovascular disease, hypertension,
certain forms of cancer and metabolic syndromes. According to the World Health Organization, there are more than
one billion adults overweight and at least 500 million obese, which characterizes obesity as a serious problem today,
both in developing countries as in developed. Weight gain comes through joint actions of environmental and genetic
factors, in particular those who are already genetically predisposed. Studies have investigated the genetic factors that
predispose to obesity, but are still poorly understood. The candidate gene studies predisposition is related to the
regulation of hungry, the energy balance, lipid metabolism and adipocyte differentiation. This project aims to study
the polymorphism of retinoic acid receptor responder 2 (RARRERS2) gene, in order to analyze a possible association
with the development of obesity. This study could contribute to advance the understanding of factors that affect the
phenotype variability, resulting in a possible definition of risk profiles for the development of this pathology. For to
realize the project, we collected blood samples from individuals with severe obesity (n = 48) and healthy subjects (n =
117), and these participants were selected from the NGO “Grupo de Resgate a Autoestima e Cidadania do Obeso”.
The polymorphism studied in this project was analyzed by real-time PCR using TaqMan probes. The study of SNP
rs4721 of RARRES2 showed an allelic frequency of T and G in individuals with morbid obesity is 49% and 51%,
respectively. Also in healthy subjects, the frequency of T and G, is 59% and 41%, respectively. Our findings showed
that there are a significant differences in genotype (χ2=7.15, p< 0.02) and allelic (χ2=6.41, p< 0.01) frequencies
between the groups. A significant protection against obesity was found in allele T (Odd Ratio [OR] = 0.54; 95%
confidence interval [CI] = 0.34-0.87) as compared to the G allele. In conclusion, our data suggest for the first time a
significant association between the polymorphism of RARRES2 gene and obesity in Rio de Janeiro, southeast Brazil.
Further studies with large sample size and different ethnicities are being conducted to confirm our previous findings.
Financial Support: CNPq and Fundação Oswaldo Cruz (FIOCRUZ)- Brazil