Research Centre for Anthropology and Health-CIAS, Department of Life Sciences, University of Coimbra, Coimbra, Portugal.
PLoS One. 2013;8(1):e54370. doi: 10.1371/journal.pone.0054370. Epub 2013 Jan 14.
Several studies have reported an association between single nucleotide polymorphisms in the first intron of the FTO gene and body mass index (BMI) or obesity. However, this association has not yet been studied among the Portuguese population. This study aims to assess the association of three FTO polymorphisms (rs1861868, rs1421085 and rs9939609) with obesity-related outcomes in a sample of Portuguese children.
We examined a total of 730 children, 256 normal-weight (55.9% girls), 320 overweight (45.3% girls) and 154 obese (53.2% girls), aging from 6 to 12-years-old, recruited randomly from public schools in the central region of Portugal. DNA samples were genotyped for the three polymorphisms by allelic discrimination TaqMan assay. Association of the FTO polymorphisms with several anthropometric traits was investigated. Additionally, we tested association with the risk of obesity using overweight and obese vs. normal-weight children.
We found significant associations of rs9939609 and rs1421085 polymorphisms with weight, BMI, BMI Z-score, waist circumference and hip circumference, even after age and gender adjustment (p<0.05 in all traits). For rs1861868 polymorphism, marginally significant associations were obtained with weight (p = 0.081) and BMI (p = 0.096) after adjustment for age and gender. In case-control studies, both rs9939609 and rs1421085 polymorphisms were significantly associated with obesity (OR 1.97; 95% CI, 1.08-3.59; p = 0.026; OR 2.11; 95% CI, 1.17-3.81; p = 0.013, respectively) but not with overweight (p>0.05). Haplotype analyses identified two combinations (ACA and GCA) associated with a higher risk of obesity (OR 1.53; 95% CI, 1.06-2.22; p = 0.023; OR 1.73; 95% CI, 1.06-2.87; p = 0.030, respectively).
This study provides the first evidence for the association of FTO polymorphisms with anthropometric traits and risk of obesity in Portuguese children.
几项研究报告称，FTO 基因第一内含子中的单核苷酸多态性与体重指数（BMI）或肥胖有关。然而，这种关联尚未在葡萄牙人群中进行研究。本研究旨在评估 FTO 三种多态性（rs1861868、rs1421085 和 rs9939609）与葡萄牙儿童肥胖相关结局之间的关系。
我们共检查了 730 名儿童，其中 256 名体重正常（55.9%为女孩），320 名超重（45.3%为女孩），154 名肥胖（53.2%为女孩），年龄在 6 至 12 岁之间，从葡萄牙中部地区的公立学校随机招募。通过等位基因鉴别 TaqMan 检测法对三种多态性进行 DNA 基因分型。研究了 FTO 多态性与几种人体测量特征的关联。此外，我们还通过超重和肥胖与正常体重儿童比较，检测了肥胖风险的相关性。
我们发现 rs9939609 和 rs1421085 多态性与体重、BMI、BMI Z 评分、腰围和臀围均有显著相关性，即使在调整年龄和性别后也是如此（所有特征的 p<0.05）。对于 rs1861868 多态性，在调整年龄和性别后，与体重（p=0.081）和 BMI（p=0.096）有边缘显著相关性。在病例对照研究中，rs9939609 和 rs1421085 多态性与肥胖均显著相关（OR 1.97；95%CI，1.08-3.59；p=0.026；OR 2.11；95%CI，1.17-3.81；p=0.013），但与超重无关（p>0.05）。单体型分析确定了两种与肥胖风险较高相关的组合（ACA 和 GCA）（OR 1.53；95%CI，1.06-2.22；p=0.023；OR 1.73；95%CI，1.06-2.87；p=0.030）。
本研究首次提供了 FTO 多态性与葡萄牙儿童人体测量特征和肥胖风险之间关联的证据。
