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CETP gene polymorphisms and haplotypes are explanatory variables for HDL cholesterol level in sickle cell disease

N R C Cruz1, T N S Valente2, F O Ferreira3

  • 1Laboratório de Biologia Celular e Genética Molecular, Departamento de Nutrição, Universidade Federal de Juiz de Fora - Campus Governador Valadares, Governador Valadares, MG, Brasil.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
|January 24, 2024
PubMed

Insights

Lipid profile variations in sickle cell disease (SCD) are linked to disease severity. Genetic factors, particularly CETP gene variants, influence HDL-C levels in pediatric SCD patients, suggesting a role in dyslipidemia.

Area of Science:

  • Genetics and Molecular Biology
  • Hematology
  • Biochemistry

Background:

  • Sickle cell disease (SCD) is associated with lipid profile abnormalities.
  • Understanding the relationship between lipid variations and SCD severity is critical for patient management.
  • Genetic factors may play a role in dyslipidemia observed in SCD.

Purpose of the Study:

  • To investigate the association between CETP gene polymorphisms and lipid profiles in pediatric SCD patients.
  • To explore the relationship between laboratory markers of disease severity and lipid profiles in SCD.
  • To determine if CETP gene variants influence lipid levels and potentially disease manifestations.

Main Methods:

  • Biochemical and anthropometric analyses were conducted on 133 pediatric SCD patients.
  • Genotyping for CETP gene variants and alpha-thalassemia was performed.
  • Lipid profiles, including ApoB, total cholesterol, LDL-C, non-HDL-C, ApoA1, and HDL-C, were analyzed in relation to genotype and clinical markers.

Main Results:

  • SCA and no hydroxyurea (HU) groups showed higher ApoB, total cholesterol, LDL-C, and non-HDL-C compared to SCC and HU groups.
  • Lower hemoglobin (Hb) levels and higher white blood cell counts were observed in patients with altered ApoA1, HDL-C, and triglyceride/HDL ratio.
  • Specific CETP gene variants (rs3764261, rs247616, rs183130) and the TTA haplotype were identified as explanatory variables for HDL-C levels.

Conclusions:

  • Dyslipidemia in SCD, particularly concerning HDL-C levels, may be influenced by an individual's genetic background via CETP gene variants.
  • Hb levels are associated with HDL-C levels in pediatric SCD patients.
  • Further research is warranted to elucidate the impact of CETP gene variants on clinical manifestations of SCD.

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