期刊论文详细信息
BMC Medical Genetics
The contribution of FTO and UCP-1 SNPs to extreme obesity, diabetes and cardiovascular risk in Brazilian individuals
Luiz De Marco5  Marta Sarquis2  Debora M Miranda1  Luciana Campanha-Versiani5  Eitan Friedman4  Bruna A Resende5  Luciana Bastos-Rodrigues5  Adauto V Ramos3 
[1]Department of Pediatrics, Universidade Federal de Minas Gerais, Belo Horizonte, 30130-100, Brazil
[2]Department of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, 30130-100, Brazil
[3]Hospital Felício Rocho, Belo Horizonte, 30110-068, Brazil
[4]The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, 52621, Israel
[5]Department of Surgery, School of Medicine, Universidade Federal de Minas Gerais, Av. Alfredo Balena 190, Belo Horizonte, 30130-100, Brazil
关键词: Multiethnic sample;    Brazilian population;    Morbid obesity;    UCP-1;    FTO;   
Others  :  1177780
DOI  :  10.1186/1471-2350-13-101
 received in 2012-05-31, accepted in 2012-10-25,  发布年份 2012
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【 摘 要 】

Background

Obesity has become a common human disorder associated with significant morbidity and mortality and adverse effects on quality of life. Sequence variants in two candidate genes, FTO and UCP-1, have been reported to be overrepresented in obese Caucasian population. The association of these genes polymorphisms with the obesity phenotype in a multiethnic group such as the Brazilian population has not been previously reported.

Methods

To assess the putative contribution of both FTO and UCP-1 to body mass index (BMI) and cardiovascular risk we genotyped SNPs rs9939609 (FTO) and rs6536991, rs22705565 and rs12502572 (UCP-1) from 126 morbidly obese subjects (BMI 42.9 ± 5.6 kg/m2, mean ± SE) and 113 normal-weight ethnically matched controls (BMI 22.6 ± 3.5 kg/m2, mean ± SE). Waist circumference, blood pressure, glucose and serum lipids were also measured. Each sample was also genotyped for 40 biallelic short insertion/deletion polymorphism (indels) for ethnic assignment and to estimate the proportion of European, African and Amerindian biogeographical ancestry in the Brazilian population.

Results

Cases did not differ from controls in the proportions of genomic ancestry. The FTO SNP rs9939609 and UCP-1 SNP rs6536991 were significantly associated with BMI (p= 0.04 and p<0.0001 respectively). An allele dose dependent tendency was observed for BMI for rs6536991 sample of controls. No other significant associations between any SNP and hypertension, hyperlipidemia and diabetes were noted after correction for BMI and no significant synergistic effect between FTO and UCP-1 SNPs with obesity were noted. There was not an association between rs9939609 (FTO) and rs6536991 (UCP-1) in with maximum weight loss after 1 year in 94 obese patients who underwent bariatric surgery.

Conclusion

Our data are consistent with FTO rs9939609 and UCP-1 rs6536991 common variants as contributors to obesity in the Brazilian population.

【 授权许可】

   
2012 Ramos et al.; licensee BioMed Central Ltd.

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