Chang Yi-Cheng, Liu Pi-Hua, Lee Wei-Jei, Chang Tien-Jyun, Jiang Yi-Der, Li Hung-Yuan, Kuo Shan-Shan, Lee Kuang-Chin, Chuang Lee-Ming
Department of Internal Medicine, National Taiwan University Hospital Yunlin Branch, Yunlin, Taiwan.
Diabetes. 2008 Aug;57(8):2245-52. doi: 10.2337/db08-0377. Epub 2008 May 16.
Genetic variants in the fat mass and obesity-associated (FTO) gene have been linked with obesity and type 2 diabetes in European populations. We aimed to test the role of FTO genetic variants in obesity and type 2 diabetes in the Chinese population.
We genotyped 19 single-nucleotide polymorphisms (SNPs) spanning from the 3' end of the neighboring RPGRIP1L gene to the 5' flanking region of the FTO gene. We analyzed their associations with obesity (638 case and 1,610 control subjects), type 2 diabetes (759 case and 784 control subjects), and obesity-related traits in nondiabetic subjects.
Among the 19 SNPs, the rs9939609 A allele was strongly associated with obesity (P = 7.0 x 10(-4)) and BMI (P = 0.0024) in the Chinese population. The odds ratio for obesity was 2.60 (95% CI 1.24-5.46) (P = 0.011) for the AA genotype and 1.32 (1.05-1.66) (P = 0.018) for the AT genotype compared with the TT genotype. Each additional copy of the rs9936609 A allele was associated with a BMI increase of approximately 0.37 kg/m(2). The rs9939609 A allele was substantially less common in the Chinese population than in the European population (12.6 vs. 45%). We did not find significant associations of the 19 SNPs with type 2 diabetes or other obesity-related traits.
Genetic variation in the FTO gene is strongly associated with obesity and BMI in the Chinese population. The risk variant is less common in the Chinese population, but its effect size on BMI is comparable with that in the European population.
脂肪量和肥胖相关（FTO）基因的遗传变异已被证明与欧洲人群的肥胖和2型糖尿病有关。我们旨在研究FTO基因变异在中国人群的肥胖和2型糖尿病中所起的作用。
我们对19个单核苷酸多态性（SNP）进行基因分型，这些SNP分布于相邻的RPGRIP1L基因的3'端至FTO基因的5'侧翼区域。我们分析了它们与肥胖（638例病例和1610例对照）、2型糖尿病（759例病例和784例对照）以及非糖尿病受试者的肥胖相关特征之间的关联。
在这19个SNP中，rs9939609 A等位基因与中国人群的肥胖（P = 7.0×10⁻⁴）和体重指数（BMI）（P = 0.0024）显著相关。与TT基因型相比，AA基因型的肥胖优势比为2.60（95%可信区间1.24 - 5.46）（P = 0.011），AT基因型为1.32（1.05 - 1.66）（P = 0.018）。rs9936609 A等位基因每增加一个拷贝，BMI约增加0.37 kg/m²。rs9939609 A等位基因在中国人群中的频率显著低于欧洲人群（12.6%对45%）。我们未发现这19个SNP与2型糖尿病或其他肥胖相关特征有显著关联。
FTO基因的遗传变异与中国人群的肥胖和BMI密切相关。该风险变异在中国人群中较不常见，但其对BMI的影响大小与欧洲人群相当。
