Laboratório de Biologia Celular e Genética Molecular, Departamento de Nutrição, Universidade Federal de Juiz de Fora - Campus Governador Valadares, Governador Valadares, MG, Brasil.
Laboratório de Biologia Celular e Genética Molecular, Departamento de Ciências Básicas da Vida, Universidade Federal de Juiz de Fora - Campus Governador Valadares, Governador Valadares, MG, Brasil.
Braz J Med Biol Res. 2024 Jan 22;57:e12879. doi: 10.1590/1414-431X2023e12879. eCollection 2024.
Variations in lipid profile have been observed in sickle cell disease (SCD) and understanding their relationship with disease severity is crucial. This study aimed to investigate the association of polymorphisms of the CETP gene and laboratory markers of disease severity with lipid profile in a pediatric population with SCD. Biochemical and anthropometric analyses and CETP and alpha-thalassemia genotyping were performed. The study included 133 children and adolescents with sickle cell anemia (SCA) or hemoglobin SC disease (SCC), in steady-state. The SCA and no hydroxyurea (no HU) groups had higher values of ApoB, total cholesterol, low-density lipoprotein cholesterol (LDL-C), and non-high-density lipoprotein cholesterol (non-HDL-C) compared to the SCC and HU groups. However, there were no significant differences in ApoA1 and HDL-C levels between the groups based on genotype. Furthermore, the groups with altered levels of ApoA1, HDL-C, and the triglyceride/HDL ratio exhibited lower hemoglobin (Hb) levels and higher white blood cell counts. Hb level was associated to HDL-C levels. Analysis of CETP gene variants showed that the minor alleles of rs3764261 (C>A), rs247616 (C>T), and rs183130 (C>T), as well as the TTA haplotype, are explanatory variables for HDL-C levels. These findings suggested that dyslipidemia in SCD, specifically related to HDL-C levels, may be influenced by individual genetic background. Additionally, further investigation is needed to determine if clinical manifestations are impacted by CETP gene variants.
脂质谱的变化在镰状细胞病（SCD）中已被观察到，了解它们与疾病严重程度的关系至关重要。本研究旨在调查 CETP 基因多态性与实验室疾病严重程度标记物与 SCD 儿科人群脂质谱的相关性。进行了生化和人体测量分析以及 CETP 和α-地中海贫血基因分型。该研究包括 133 名处于稳定状态的镰状细胞贫血（SCA）或血红蛋白 SC 疾病（SCC）的儿童和青少年。SCA 和无羟基脲（无 HU）组的 ApoB、总胆固醇、低密度脂蛋白胆固醇（LDL-C）和非高密度脂蛋白胆固醇（非 HDL-C）值高于 SCC 和 HU 组。然而，根据基因型，ApoA1 和 HDL-C 水平在各组之间没有显著差异。此外，ApoA1、HDL-C 和甘油三酯/HDL 比值水平改变的组表现出较低的血红蛋白（Hb）水平和较高的白细胞计数。Hb 水平与 HDL-C 水平相关。CETP 基因变异分析表明，rs3764261（C>A）、rs247616（C>T）和 rs183130（C>T）的次要等位基因以及 TTA 单倍型是 HDL-C 水平的解释变量。这些发现表明，SCD 中的血脂异常，特别是与 HDL-C 水平相关的血脂异常，可能受个体遗传背景的影响。此外，需要进一步研究以确定 CETP 基因变异是否影响临床表现。
