title: Lipoprotein profiles in children with two common cholesteryl ester transfer protein gene mutations, D442G and I14A, during the first year of life.
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.
  
  
  CONCLUSIONS
  CETP is a determinant for LDL-C and HDL-C in CETP-deficient individuals in the first year of life.
authors.affiliation: Division of Metabolism, Chiba Children's Hospital, Chiba 266-0007, Japan. nagasa-hirono@k2.dion.ne.jp
authors.forename: Hironori
authors.initials: H
authors.lastname: Nagasaka
authors.forename: Tohru
authors.initials: T
authors.lastname: Yorifuji
authors.forename: Toru
authors.initials: T
authors.lastname: Momoi
authors.forename: Junko
authors.initials: J
authors.lastname: Yorifuji
authors.forename: Kenichi
authors.initials: K
authors.lastname: Hirano
authors.forename: Akemi
authors.initials: A
authors.lastname: Ota
authors.forename: Tomozumi
authors.initials: T
authors.lastname: Takatani
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Tsukahara
authors.forename: Masaki
authors.initials: M
authors.lastname: Takayanagi
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Chiba
authors.forename: Yukiyasu
authors.initials: Y
authors.lastname: Sato
authors.forename: Takashi
authors.initials: T
authors.lastname: Miida
mesh_terms: D001053:Apolipoproteins / Q000378:metabolism; D053480:Cholesterol Ester Transfer Proteins / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D050356:Lipid Metabolism; D008074:Lipoproteins / Q000378:metabolism*; D008297:Male; D009154:Mutation
chemical_list: D001053:Apolipoproteins; D053480:Cholesterol Ester Transfer Proteins; D008074:Lipoproteins