Lipoprotein profiles in children with two common cholesteryl ester transfer protein gene mutations, D442G and I14A, during the first year of life

Hironori Nagasaka, Tohru Yorifuji, Toru Momoi, Junko Yorifuji, Kenichi Hirano, Akemi Ota, Tomozumi Takatani, Hirokazu Tsukahara, Masaki Takayanagi, Kunihiko Kobayashi, Hitoshi Chiba, Yukiyasu Sato, Takashi Miida

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Background: Hyperalphalipoproteinemia is associated with cholesteryl ester transfer protein (CETP) deficiency in adults but has unclear associations in children. Methods: We measured lipoproteins in 19 heterozygotes (D442G, n = 17; I14A, n = 2), one D442G/I14A compound heterozygote, 13 non-affected siblings, and 30 healthy controls at birth, 3-4 months, and 12 months. Results: CETP mass was 32-70% lower in heterozygotes than in controls throughout the year. Low-density lipoprotein-cholesterol (LDL-C) was lower in heterozygotes than in controls by 30, 20, and 15% at birth, 3-4 months, and 12 months, respectively. High-density lipoprotein-cholesterol (HDL-C) was similar among the groups at birth, but was 10% higher in heterozygotes compared with controls at 3-4 and 12 months. ApoE-rich HDL-C was similar between the two groups at birth, but was 50% higher in heterozygotes than in controls at 3-4 and 12 months. These lipoprotein profile characteristics were prominent in the compound heterozygote but were not found in non-affected siblings. In heterozygotes, CETP mass correlated positively with LDL-C but negatively with HDL-C at 3-4 and 12 months. Conclusion: CETP is a determinant for LDL-C and HDL-C in CETP-deficient individuals in the first year of life.

Original languageEnglish
Pages (from-to)52-56
Number of pages5
JournalClinica Chimica Acta
Volume406
Issue number1-2
DOIs
Publication statusPublished - Aug 11 2009
Externally publishedYes

Keywords

  • ApoE-rich HDL
  • CETP
  • D442G and I14A
  • Early life
  • LDL

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

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    Nagasaka, H., Yorifuji, T., Momoi, T., Yorifuji, J., Hirano, K., Ota, A., Takatani, T., Tsukahara, H., Takayanagi, M., Kobayashi, K., Chiba, H., Sato, Y., & Miida, T. (2009). Lipoprotein profiles in children with two common cholesteryl ester transfer protein gene mutations, D442G and I14A, during the first year of life. Clinica Chimica Acta, 406(1-2), 52-56. https://doi.org/10.1016/j.cca.2009.05.007