Chuenta Wanida, Phonrat Benjaluck, Tungtrongchitr Anchalee, Limwongse Chanin, Chongviriyaphan Nalinee, Santiprabhob Jeerunda, Tungtrongchitr Rungsunn
Department of Tropical Nutrition and Food Science, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.
Department of Clinical Tropical Medicine, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.
Gene. 2015 Mar 1;558(1):75-81. doi: 10.1016/j.gene.2014.12.050. Epub 2014 Dec 24.
Several studies have revealed the association between single nucleotide polymorphisms (SNPs) in the first intron of fat mass and obesity-associated (FTO) gene and obesity. To date, more than 100 SNPs in the FTO gene have been identified in various populations. Nevertheless, this association has not yet been confirmed in Thai populations. The aim of this study was to investigate whether FTO variants are associated with obesity in Thais. We analyzed ten variants in the FTO gene (rs9939609, rs9926289, rs8050136, rs9930501, rs9930506, rs9940646, rs9940128, rs1421085, rs17817449, and rs8043757) in 12 families (83 persons); composed of 12 proband cases and 71 associated family members. All participants were genotyped using polymerase chain reaction (PCR) method and DNA sequencing assay. We found significant associations between three SNPs located in the first intron of FTO gene (rs1421085, rs17817449, and rs8043757) and obesity. The odds ratios were 2.82 (95% CI, 1.16-6.90, p=0.02) for rs1421085 and rs17817449, and 3.15 (95% CI, 1.28-7.76, p=0.01) for rs8043757. Strong linkage disequilibrium among ten SNPs was observed (D'>0.8). Haplotype analysis (combination of rs1421085 (T/C), rs17817449 (T/G), and rs8043757 (A/T)) showed that the CGT haplotype is associated with an increased risk of obesity (OR, 2.42; 95% CI, 1.18-4.97; p=0.018) when compared to the reference haplotype (TTA). The SNPs rs1421085, rs17817449 and rs8043757 in the first intron of the FTO gene are associated with increasing risk of obesity in Thais.
多项研究揭示了脂肪量和肥胖相关基因（FTO）第一内含子中的单核苷酸多态性（SNP）与肥胖之间的关联。迄今为止，已在不同人群中鉴定出FTO基因中的100多个SNP。然而，这种关联在泰国人群中尚未得到证实。本研究的目的是调查FTO基因变异是否与泰国人的肥胖有关。我们分析了12个家庭（83人）中FTO基因的10个变异（rs9939609、rs9926289、rs8050136、rs9930501、rs9930506、rs9940646、rs9940128、rs1421085、rs17817449和rs8043757）；其中包括12例先证者病例和71名相关家庭成员。所有参与者均采用聚合酶链反应（PCR）方法和DNA测序分析进行基因分型。我们发现位于FTO基因第一内含子中的三个SNP（rs1421085、rs17817449和rs8043757）与肥胖之间存在显著关联。rs1421085和rs17817449的优势比为2.82（95%可信区间，1.16 - 6.90，p = 0.02），rs8043757的优势比为3.15（95%可信区间，1.28 - 7.76，p = 0.01）。观察到10个SNP之间存在强连锁不平衡（D'>0.8）。单倍型分析（rs1421085（T/C）、rs17817449（T/G）和rs8043757（A/T）的组合）显示，与参考单倍型（TTA）相比，CGT单倍型与肥胖风险增加相关（优势比，2.42；95%可信区间，1.18 - 4.97；p = 0.018）。FTO基因第一内含子中的SNP rs1421085、rs17817449和rs8043757与泰国人肥胖风险增加有关。
