Reddy Aakash, Venkatesh Katari, Sahu Sayani, Roy Pallavi Sinha, Datta Konkona, Reddy L Vinod Kumar, Moghal Erfath Thanjeem Begum, Mullick Madhubanti, Rao Gundu H R, Sen Dwaipayan
Cellular and Molecular Therapeutics Laboratory, Centre for Biomaterials, Cellular and Molecular Theranostics, Vellore Institute of Technology (VIT), Vellore, India.
Emeritus Professor, Laboratory Medicine and Pathology, University of Minnesota, Minnesota, 55410, United States.
Curr Diabetes Rev. 2019;16(1):84-94. doi: 10.2174/2542591901666181126144449.
The Fat mass and obesity-associated gene (FTO) and its involvement in weight gain and obesity is well-known. However, no reports have been published on the Indian population regarding the relationship between single nucleotide polymorphisms (SNPs) in its intronic region and obesity. The aim of this pilot study was to evaluate the frequency and association of SNPs in intron-1 of the FTO gene in obese and overweight Indian adults.
This study group consisted of 80 adults, aged 23.5 ± 8.9 yr, with a mean BMI of 28.8 ± 6.2 kg/m2. Genomic DNA was isolated, exons1-3 & intron1 of FTO were amplified using polymerase chain reaction and sequenced by ABI sequencing detection system. The reported SNPs rs1420185, rs8050136, rs1121980 and rs55872725 were checked for their presence or absence in this group of the adult Indian population.
No mutations were found in the exonic sequence of FTO, however, the association of rs1420185, rs8050136, rs1121980 and rs55872725 SNPs was identified in this population. The genotypic frequency at FTO rs8050136 was 32.2% for C>A, at rs55872725 it was 45.7% for C>T, at rs1420185 it was 27.1% for T>C and at rs1121980 it was 30.5% for G>A. All four SNPs in combination were observed in 6 participants (10.2%), all of whom were found to be either obese or overweight.
These findings indicate that Indians with these SNPs are most likely to be at increased risk of obesity.
脂肪量和肥胖相关基因（FTO）及其与体重增加和肥胖的关联已广为人知。然而，关于印度人群中其内含子区域单核苷酸多态性（SNP）与肥胖之间的关系，尚未有报道发表。本初步研究的目的是评估肥胖和超重的印度成年人中FTO基因内含子1中SNP的频率及关联性。
本研究组由80名成年人组成，年龄为23.5±8.9岁，平均体重指数为28.8±6.2kg/m²。提取基因组DNA，使用聚合酶链反应扩增FTO的外显子1-3和内含子1，并通过ABI测序检测系统进行测序。检查已报道的SNP rs1420185、rs8050136、rs1121980和rs55872725在这组印度成年人群体中是否存在。
在FTO的外显子序列中未发现突变，然而，在该人群中确定了rs1420185、rs8050136、rs1121980和rs55872725 SNP的关联性。FTO rs8050136的C>A基因型频率为32.2%，rs55872725的C>T基因型频率为45.7%，rs1420185的T>C基因型频率为27.1%，rs1121980的G>A基因型频率为30.5%。在6名参与者（10.2%）中观察到所有四个SNP的组合，所有这些参与者均被发现为肥胖或超重。
这些发现表明携带这些SNP的印度人肥胖风险很可能增加。
