Genetics
CETP gene mutations shape LDL and HDL cholesterol from birth through the first year of life (Clin Chim Acta 2009)
Original title: Lipoprotein profiles in children with two common cholesteryl ester transfer protein gene mutations, D442G and I14A, during the first year of life
In infants with CETP D442G or I14A gene mutations (19 heterozygotes, one D442G/I14A compound heterozygote), 13 non-affected siblings, and 30 healthy controls followed at birth, 3-4 months, and 12 months, CETP mass was 32-70% lower in heterozygotes than controls throughout the year. LDL-cholesterol was 30%, 20%, and 15% lower in heterozygotes at birth, 3-4 months, and 12 months respectively, while HDL-cholesterol, similar to controls at birth, became 10% higher in heterozygotes at 3-4 and 12 months, and ApoE-rich HDL-cholesterol became 50% higher. These effects were most pronounced in the compound heterozygote and absent in non-affected siblings, and CETP mass correlated positively with LDL-C but negatively with HDL-C, showing CETP already determines LDL-C and HDL-C levels within the first year of life.
Original 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.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.