Genetics
CETP gene variants help explain HDL cholesterol levels in children with sickle cell disease (Braz J Med Biol Res 2024)
Original title: CETP gene polymorphisms and haplotypes are explanatory variables for HDL cholesterol level in sickle cell disease
In 133 children and adolescents with sickle cell anaemia or haemoglobin SC disease in steady state, researchers examined how CETP gene polymorphisms and markers of disease severity relate to lipid profile. Patients with sickle cell anaemia not receiving hydroxyurea had higher apolipoprotein B, total cholesterol, LDL cholesterol and non-HDL cholesterol than those with haemoglobin SC disease or hydroxyurea treatment, though HDL cholesterol and apolipoprotein A1 did not differ by genotype group, and lower haemoglobin levels tracked with altered HDL-related lipid measures. The minor alleles of CETP variants rs3764261, rs247616 and rs183130, together with the TTA haplotype, were identified as explanatory variables for HDL cholesterol levels, suggesting individual CETP genetic background contributes to the dyslipidaemia seen in sickle cell disease.
Original abstract
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.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.