Department of Clinical Pathology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
J Pediatr Endocrinol Metab. 2024 Jan 11;37(2):110-122. doi: 10.1515/jpem-2023-0372. Print 2024 Feb 26.
This study aims to explore the effects of fat mass obesity-associated (FTO) (rs9939609) and melanocortin 4 receptor (MC4R) (rs17782313) gene polymorphisms in children with type 1 diabetes (T1D) and their relation to obesity.
Fat mass obesity-associated (FTO) (rs9939609) and melanocortin 4 receptor (MC4R) (rs17782313) gene polymorphisms were evaluated in 164 patients and 100 controls, and genotypes, alleles, and haplotype frequencies were compared between cases and controls.
A significant association with T1D development was found with the , and genotypes and the allele of rs17782313. In addition, and genotypes and the allele of rs9939609 may also be risky for T1D development. While the and genotypes of rs17782313 may be protective against obesity development, the genotype and allele of rs9939609 may also be protective against obesity development. Regarding obese subjects, comparing diabetics vs. non-diabetic studied subjects, rs9939609, , and genotypes and the A allele had significantly higher frequencies in T1D with a higher risk of developing T1D. However, conducting multivariable analysis using significant covariates in univariable analysis revealed that only earlier age of T1D onset, lower C-peptide, and the dominant model were considered independent predictors of obesity within T1D.
The role of both genes' polymorphisms on the pathogenesis and the outcome of T1D and obesity can help in understanding the pathogenesis of both diseases and their associations with each other's and may be used as novel therapeutic targets for both diseases.
本研究旨在探讨肥胖相关脂肪量（FTO）（rs9939609）和黑素皮质素 4 受体（MC4R）（rs17782313）基因多态性在 1 型糖尿病（T1D）患儿中的作用及其与肥胖的关系。
在 164 例患者和 100 例对照中评估了肥胖相关脂肪量（FTO）（rs9939609）和黑素皮质素 4 受体（MC4R）（rs17782313）基因多态性，并比较了病例组和对照组之间的基因型、等位基因和单倍型频率。
发现 rs17782313 的 、和 基因型和 等位基因与 T1D 发病显著相关。此外，rs9939609 的 、和 基因型和 等位基因也可能增加 T1D 发病风险。而 rs17782313 的 、和 基因型可能对肥胖发病具有保护作用，rs9939609 的 基因型和 等位基因也可能对肥胖发病具有保护作用。对于肥胖患者，比较糖尿病与非糖尿病研究对象，rs9939609、、基因型和 A 等位基因在 T1D 中频率明显较高，T1D 发病风险较高。然而，在单变量分析中使用显著协变量进行多变量分析显示，只有 T1D 发病年龄较早、C 肽较低和显性模型被认为是 T1D 中肥胖的独立预测因子。
这两个基因的多态性在 T1D 和肥胖的发病机制和结果中可能起到一定作用，有助于了解这两种疾病的发病机制及其相互关系，并可能作为这两种疾病的新的治疗靶点。
