Mourad Shereen A, El-Farahaty Reham M, Atwa Mohamed A, Yahia Sohier, El-Gilany Abdel-Hady, Elzeiny Ahmed A, Elhennawy Eman S
Department of Clinical Pathology Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Department of Pediatrics Genetics Unit Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Eur J Pediatr. 2024 Dec 21;184(1):95. doi: 10.1007/s00431-024-05909-5.
Children with Down syndrome (DS) have a higher incidence of overweight and obesity compared to typically developing peers. The fat mass and obesity-associated gene (FTO) is one of the early identified genes linked to obesity in various populations. To date, the FTO rs17817449 gene polymorphism has not been investigated in overweight/obese-DS (ODS) individuals. The current study aimed to explore the potential association between the FTO rs17817449 gene polymorphism and obesity-related markers, and to evaluate the ability of this polymorphism in the prediction of overweight/obesity in DS children and adolescents. This case-control study included 100 DS children under the age of 18, classified into three groups according to BMI-percentile; 50 non-obese DS (NODS), 24 overweight DS, and 26 ODS. Genotyping of FTO gene rs17817449 polymorphism was performed using the restriction fragment length polymorphism (RFLP-PCR) method. Serum lipid and thyroid profiles were also assessed. The results revealed significant increase in the frequency of the FTO rs17817449 T allele among overweight /ODS children compared to NODS children (p=0.0099). Overweight/ODS children exhibited significantly higher frequencies of the FTO rs17817449 GT and TT genotypes compared to NODS children.
There is an association between FTO rs17817449 genetic variant and overweight/obesity among the studied DS groups. The FTO rs17817449 GT and TT genotypes, as well as TGs level, were identified as independent risk factors for predicting overweight and obesity in DS children.
• Overweight and obese-DS (ODS) children displayed higher BMI and atherogenic lipid profile than non-obese DS children (NODS). FTO gene polymorphism rs17817449 contributes to obesity development in general population, but there is conflicting information about the risk allele.
• FTO rs17817449 TT genotype and T allele were considered as independent risk factors for overweight and obesity development in DS children, so they could be used for obesity prediction in DS children.
与正常发育的同龄人相比,唐氏综合征(DS)患儿超重和肥胖的发生率更高。脂肪量和肥胖相关基因(FTO)是早期发现的与不同人群肥胖相关的基因之一。迄今为止,尚未对超重/肥胖唐氏综合征(ODS)个体的FTO rs17817449基因多态性进行研究。本研究旨在探讨FTO rs17817449基因多态性与肥胖相关标志物之间的潜在关联,并评估该多态性在预测DS儿童和青少年超重/肥胖方面的能力。这项病例对照研究纳入了100名18岁以下的DS儿童,根据BMI百分位数分为三组;50名非肥胖DS(NODS)儿童、24名超重DS儿童和26名ODS儿童。采用限制性片段长度多态性(RFLP-PCR)方法对FTO基因rs17817449多态性进行基因分型。还评估了血清脂质和甲状腺指标。结果显示,与NODS儿童相比,超重/ODS儿童中FTO rs17817449 T等位基因的频率显著增加(p = 0.0099)。与NODS儿童相比,超重/ODS儿童中FTO rs17817449 GT和TT基因型的频率显著更高。
在所研究的DS组中,FTO rs17817449基因变异与超重/肥胖之间存在关联。FTO rs17817449 GT和TT基因型以及甘油三酯水平被确定为预测DS儿童超重和肥胖的独立危险因素。
• 超重和肥胖唐氏综合征(ODS)儿童的BMI和致动脉粥样硬化脂质谱高于非肥胖DS儿童(NODS)。FTO基因多态性rs17817449在一般人群中促成肥胖发展,但关于风险等位基因存在相互矛盾的信息。
• FTO rs17817449 TT基因型和T等位基因被认为是DS儿童超重和肥胖发展的独立危险因素,因此可用于DS儿童肥胖的预测。