Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil.
Escola Bahiana de Medicina e Saúde Pública, Salvador, Brazil.
J Obes. 2024 Oct 24;2024:3813621. doi: 10.1155/2024/3813621. eCollection 2024.
Genetic variability significantly impacts metabolism, weight gain, and feeding behaviors, predisposing individuals to obesity. This study explored how variations in key genes related to obesity- (forkhead box O3), (protein kinase AMP-activated), and (proopiomelanocortin)-are associated with extreme obesity (EOB). We conducted a case-control study with 251 EOB patients and 212 healthy controls with a body mass index (BMI) of less than 25 kg/m. We genotyped 10 single nucleotide variants (SNVs) using TaqMan-based assays. Four SNVs-rs1536057 in , rs103685 in , rs934778, and rs6545975 in -were associated with an increased risk of EOB. The strongest association was observed with rs934778 (), which had a maximum odds ratio (OR) of 5.26 (95% CI: 2.86-9.09). While these genetic variations are closely linked to EOB, they do not affect serum glucose, triglycerides, HDL, LDL, BMI, or waist circumference. These findings indicate that factors beyond traditional metabolic pathways, potentially related to feeding behavior or hormonal regulation, may also link these genetic variations to obesity. Further research in a larger sample is essential to validate these findings and explore their potential to guide clinical interventions and public health strategies.
遗传变异显著影响代谢、体重增加和进食行为，使个体易患肥胖症。本研究探讨了与肥胖相关的关键基因（叉头框 O3、蛋白激酶 AMP 激活、前阿黑皮素原）的变异与极度肥胖（EOB）的关系。我们进行了一项病例对照研究，纳入了 251 名 EOB 患者和 212 名 BMI 小于 25kg/m 的健康对照者。我们使用 TaqMan 基于检测法对 10 个单核苷酸变异（SNVs）进行了基因分型。rs1536057 位于 中、rs103685 位于 中、rs934778 和 rs6545975 位于 中这 4 个 SNVs 与 EOB 的风险增加相关。rs934778（）的相关性最强，其最大优势比（OR）为 5.26（95%CI：2.86-9.09）。尽管这些遗传变异与 EOB 密切相关，但它们并不影响血清葡萄糖、甘油三酯、HDL、LDL、BMI 或腰围。这些发现表明，除了传统代谢途径之外，可能与进食行为或激素调节有关的其他因素也可能将这些遗传变异与肥胖联系起来。进一步在更大的样本中进行研究对于验证这些发现并探索其指导临床干预和公共卫生策略的潜力至关重要。
